Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs150398954

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:109138835-109138851 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(A)5 / del(A)4 / delAAA / delAA…

del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)6 / dup(A)7 / dup(A)8 / dup(A)9 / dup(A)10 / dup(A)11 / dup(A)12 / dup(A)13 / dup(A)14 / dup(A)15 / dup(A)16 / dup(A)17 / ins(A)18 / ins(A)19 / ins(A)20 / ins(A)21 / ins(A)22 / ins(A)23 / ins(A)24 / ins(A)25 / ins(A)26 / ins(A)27 / ins(A)28 / ins(A)29 / ins(A)30 / ins(A)32 / ins(A)38 / ins(A)42 / ins(A)45 / ins(A)22CCT(A)38 / insAC(A)19

Variation Type
Indel Insertion and Deletion
Frequency
dupA=0.3482 (1744/5008, 1000G)
del(A)5=0.000 (0/830, ALFA)
delAAA=0.000 (0/830, ALFA) (+ 19 more)
delAA=0.000 (0/830, ALFA)
delA=0.000 (0/830, ALFA)
dupA=0.000 (0/830, ALFA)
dupAA=0.000 (0/830, ALFA)
dupAAA=0.000 (0/830, ALFA)
dup(A)4=0.000 (0/830, ALFA)
dup(A)6=0.000 (0/830, ALFA)
dup(A)7=0.000 (0/830, ALFA)
dup(A)8=0.000 (0/830, ALFA)
dup(A)9=0.000 (0/830, ALFA)
dup(A)11=0.000 (0/830, ALFA)
dup(A)12=0.000 (0/830, ALFA)
dup(A)13=0.000 (0/830, ALFA)
dup(A)14=0.000 (0/830, ALFA)
dup(A)15=0.000 (0/830, ALFA)
dup(A)16=0.000 (0/830, ALFA)
dup(A)17=0.000 (0/830, ALFA)
ins(A)18=0.000 (0/830, ALFA)
ins(A)19=0.000 (0/830, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ELAPOR1 : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 830 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
European Sub 456 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Sub 276 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 12 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 264 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 2 AAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
East Asian Sub 2 AAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 0 AAAAAAAAAAAAAAAAA=0 AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 1 Sub 18 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 44 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 2 AAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Sub 32 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
1000Genomes Global Study-wide 5008 -

No frequency provided

dupA=0.3482
1000Genomes African Sub 1322 -

No frequency provided

dupA=0.2700
1000Genomes East Asian Sub 1008 -

No frequency provided

dupA=0.4315
1000Genomes Europe Sub 1006 -

No frequency provided

dupA=0.4115
1000Genomes South Asian Sub 978 -

No frequency provided

dupA=0.297
1000Genomes American Sub 694 -

No frequency provided

dupA=0.357
Allele Frequency Aggregator Total Global 830 (A)17=1.000 del(A)5=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)6=0.000, dup(A)7=0.000, dup(A)8=0.000, dup(A)9=0.000, dup(A)11=0.000, dup(A)12=0.000, dup(A)13=0.000, dup(A)14=0.000, dup(A)15=0.000, dup(A)16=0.000, dup(A)17=0.000, ins(A)18=0.000, ins(A)19=0.000
Allele Frequency Aggregator European Sub 456 (A)17=1.000 del(A)5=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)6=0.000, dup(A)7=0.000, dup(A)8=0.000, dup(A)9=0.000, dup(A)11=0.000, dup(A)12=0.000, dup(A)13=0.000, dup(A)14=0.000, dup(A)15=0.000, dup(A)16=0.000, dup(A)17=0.000, ins(A)18=0.000, ins(A)19=0.000
Allele Frequency Aggregator African Sub 276 (A)17=1.000 del(A)5=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)6=0.000, dup(A)7=0.000, dup(A)8=0.000, dup(A)9=0.000, dup(A)11=0.000, dup(A)12=0.000, dup(A)13=0.000, dup(A)14=0.000, dup(A)15=0.000, dup(A)16=0.000, dup(A)17=0.000, ins(A)18=0.000, ins(A)19=0.000
Allele Frequency Aggregator Latin American 2 Sub 44 (A)17=1.00 del(A)5=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)6=0.00, dup(A)7=0.00, dup(A)8=0.00, dup(A)9=0.00, dup(A)11=0.00, dup(A)12=0.00, dup(A)13=0.00, dup(A)14=0.00, dup(A)15=0.00, dup(A)16=0.00, dup(A)17=0.00, ins(A)18=0.00, ins(A)19=0.00
Allele Frequency Aggregator Other Sub 32 (A)17=1.00 del(A)5=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)6=0.00, dup(A)7=0.00, dup(A)8=0.00, dup(A)9=0.00, dup(A)11=0.00, dup(A)12=0.00, dup(A)13=0.00, dup(A)14=0.00, dup(A)15=0.00, dup(A)16=0.00, dup(A)17=0.00, ins(A)18=0.00, ins(A)19=0.00
Allele Frequency Aggregator Latin American 1 Sub 18 (A)17=1.00 del(A)5=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)6=0.00, dup(A)7=0.00, dup(A)8=0.00, dup(A)9=0.00, dup(A)11=0.00, dup(A)12=0.00, dup(A)13=0.00, dup(A)14=0.00, dup(A)15=0.00, dup(A)16=0.00, dup(A)17=0.00, ins(A)18=0.00, ins(A)19=0.00
Allele Frequency Aggregator South Asian Sub 2 (A)17=1.0 del(A)5=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)4=0.0, dup(A)6=0.0, dup(A)7=0.0, dup(A)8=0.0, dup(A)9=0.0, dup(A)11=0.0, dup(A)12=0.0, dup(A)13=0.0, dup(A)14=0.0, dup(A)15=0.0, dup(A)16=0.0, dup(A)17=0.0, ins(A)18=0.0, ins(A)19=0.0
Allele Frequency Aggregator Asian Sub 2 (A)17=1.0 del(A)5=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)4=0.0, dup(A)6=0.0, dup(A)7=0.0, dup(A)8=0.0, dup(A)9=0.0, dup(A)11=0.0, dup(A)12=0.0, dup(A)13=0.0, dup(A)14=0.0, dup(A)15=0.0, dup(A)16=0.0, dup(A)17=0.0, ins(A)18=0.0, ins(A)19=0.0
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 1 NC_000001.11:g.109138847_109138851del
GRCh38.p14 chr 1 NC_000001.11:g.109138848_109138851del
GRCh38.p14 chr 1 NC_000001.11:g.109138849_109138851del
GRCh38.p14 chr 1 NC_000001.11:g.109138850_109138851del
GRCh38.p14 chr 1 NC_000001.11:g.109138851del
GRCh38.p14 chr 1 NC_000001.11:g.109138851dup
GRCh38.p14 chr 1 NC_000001.11:g.109138850_109138851dup
GRCh38.p14 chr 1 NC_000001.11:g.109138849_109138851dup
GRCh38.p14 chr 1 NC_000001.11:g.109138848_109138851dup
GRCh38.p14 chr 1 NC_000001.11:g.109138847_109138851dup
GRCh38.p14 chr 1 NC_000001.11:g.109138846_109138851dup
GRCh38.p14 chr 1 NC_000001.11:g.109138845_109138851dup
GRCh38.p14 chr 1 NC_000001.11:g.109138844_109138851dup
GRCh38.p14 chr 1 NC_000001.11:g.109138843_109138851dup
GRCh38.p14 chr 1 NC_000001.11:g.109138842_109138851dup
GRCh38.p14 chr 1 NC_000001.11:g.109138841_109138851dup
GRCh38.p14 chr 1 NC_000001.11:g.109138840_109138851dup
GRCh38.p14 chr 1 NC_000001.11:g.109138839_109138851dup
GRCh38.p14 chr 1 NC_000001.11:g.109138838_109138851dup
GRCh38.p14 chr 1 NC_000001.11:g.109138837_109138851dup
GRCh38.p14 chr 1 NC_000001.11:g.109138836_109138851dup
GRCh38.p14 chr 1 NC_000001.11:g.109138835_109138851dup
GRCh38.p14 chr 1 NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1 NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1 NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1 NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1 NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1 NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1 NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1 NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1 NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1 NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1 NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1 NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1 NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1 NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1 NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1 NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1 NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 1 NC_000001.11:g.109138835_109138851A[39]CCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh38.p14 chr 1 NC_000001.11:g.109138835_109138851A[18]CAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 1 NC_000001.10:g.109681469_109681473del
GRCh37.p13 chr 1 NC_000001.10:g.109681470_109681473del
GRCh37.p13 chr 1 NC_000001.10:g.109681471_109681473del
GRCh37.p13 chr 1 NC_000001.10:g.109681472_109681473del
GRCh37.p13 chr 1 NC_000001.10:g.109681473del
GRCh37.p13 chr 1 NC_000001.10:g.109681473dup
GRCh37.p13 chr 1 NC_000001.10:g.109681472_109681473dup
GRCh37.p13 chr 1 NC_000001.10:g.109681471_109681473dup
GRCh37.p13 chr 1 NC_000001.10:g.109681470_109681473dup
GRCh37.p13 chr 1 NC_000001.10:g.109681469_109681473dup
GRCh37.p13 chr 1 NC_000001.10:g.109681468_109681473dup
GRCh37.p13 chr 1 NC_000001.10:g.109681467_109681473dup
GRCh37.p13 chr 1 NC_000001.10:g.109681466_109681473dup
GRCh37.p13 chr 1 NC_000001.10:g.109681465_109681473dup
GRCh37.p13 chr 1 NC_000001.10:g.109681464_109681473dup
GRCh37.p13 chr 1 NC_000001.10:g.109681463_109681473dup
GRCh37.p13 chr 1 NC_000001.10:g.109681462_109681473dup
GRCh37.p13 chr 1 NC_000001.10:g.109681461_109681473dup
GRCh37.p13 chr 1 NC_000001.10:g.109681460_109681473dup
GRCh37.p13 chr 1 NC_000001.10:g.109681459_109681473dup
GRCh37.p13 chr 1 NC_000001.10:g.109681458_109681473dup
GRCh37.p13 chr 1 NC_000001.10:g.109681457_109681473dup
GRCh37.p13 chr 1 NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 1 NC_000001.10:g.109681457_109681473A[39]CCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 1 NC_000001.10:g.109681457_109681473A[18]CAAAAAAAAAAAAAAAAAAA[1]
ELAPOR1 RefSeqGene NG_032763.1:g.29885_29889del
ELAPOR1 RefSeqGene NG_032763.1:g.29886_29889del
ELAPOR1 RefSeqGene NG_032763.1:g.29887_29889del
ELAPOR1 RefSeqGene NG_032763.1:g.29888_29889del
ELAPOR1 RefSeqGene NG_032763.1:g.29889del
ELAPOR1 RefSeqGene NG_032763.1:g.29889dup
ELAPOR1 RefSeqGene NG_032763.1:g.29888_29889dup
ELAPOR1 RefSeqGene NG_032763.1:g.29887_29889dup
ELAPOR1 RefSeqGene NG_032763.1:g.29886_29889dup
ELAPOR1 RefSeqGene NG_032763.1:g.29885_29889dup
ELAPOR1 RefSeqGene NG_032763.1:g.29884_29889dup
ELAPOR1 RefSeqGene NG_032763.1:g.29883_29889dup
ELAPOR1 RefSeqGene NG_032763.1:g.29882_29889dup
ELAPOR1 RefSeqGene NG_032763.1:g.29881_29889dup
ELAPOR1 RefSeqGene NG_032763.1:g.29880_29889dup
ELAPOR1 RefSeqGene NG_032763.1:g.29879_29889dup
ELAPOR1 RefSeqGene NG_032763.1:g.29878_29889dup
ELAPOR1 RefSeqGene NG_032763.1:g.29877_29889dup
ELAPOR1 RefSeqGene NG_032763.1:g.29876_29889dup
ELAPOR1 RefSeqGene NG_032763.1:g.29875_29889dup
ELAPOR1 RefSeqGene NG_032763.1:g.29874_29889dup
ELAPOR1 RefSeqGene NG_032763.1:g.29873_29889dup
ELAPOR1 RefSeqGene NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAA
ELAPOR1 RefSeqGene NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAA
ELAPOR1 RefSeqGene NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAA
ELAPOR1 RefSeqGene NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAA
ELAPOR1 RefSeqGene NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAA
ELAPOR1 RefSeqGene NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAA
ELAPOR1 RefSeqGene NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAA
ELAPOR1 RefSeqGene NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAA
ELAPOR1 RefSeqGene NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAA
ELAPOR1 RefSeqGene NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAA
ELAPOR1 RefSeqGene NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ELAPOR1 RefSeqGene NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ELAPOR1 RefSeqGene NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ELAPOR1 RefSeqGene NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ELAPOR1 RefSeqGene NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ELAPOR1 RefSeqGene NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ELAPOR1 RefSeqGene NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ELAPOR1 RefSeqGene NG_032763.1:g.29873_29889A[39]CCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
ELAPOR1 RefSeqGene NG_032763.1:g.29873_29889A[18]CAAAAAAAAAAAAAAAAAAA[1]
Gene: ELAPOR1, endosome-lysosome associated apoptosis and autophagy regulator 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ELAPOR1 transcript variant 2 NM_001267048.2:c.154-2304…

NM_001267048.2:c.154-23047_154-23043del

N/A Intron Variant
ELAPOR1 transcript variant 4 NM_001284352.2:c.-33+2451…

NM_001284352.2:c.-33+24511_-33+24515del

N/A Intron Variant
ELAPOR1 transcript variant 1 NM_020775.5:c.154-23047_1…

NM_020775.5:c.154-23047_154-23043del

N/A Intron Variant
ELAPOR1 transcript variant 5 NM_001284353.2:c. N/A Genic Upstream Transcript Variant
ELAPOR1 transcript variant X1 XM_011541825.3:c.154-2304…

XM_011541825.3:c.154-23047_154-23043del

N/A Intron Variant
ELAPOR1 transcript variant X2 XM_011541826.4:c.154-2304…

XM_011541826.4:c.154-23047_154-23043del

N/A Intron Variant
ELAPOR1 transcript variant X3 XM_011541827.3:c.154-2304…

XM_011541827.3:c.154-23047_154-23043del

N/A Intron Variant
ELAPOR1 transcript variant X4 XM_047426133.1:c. N/A Genic Upstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (A)17= del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)7 dup(A)8 dup(A)9 dup(A)10 dup(A)11 dup(A)12 dup(A)13 dup(A)14 dup(A)15 dup(A)16 dup(A)17 ins(A)18 ins(A)19 ins(A)20 ins(A)21 ins(A)22 ins(A)23 ins(A)24 ins(A)25 ins(A)26 ins(A)27 ins(A)28 ins(A)29 ins(A)30 ins(A)32 ins(A)38 ins(A)42 ins(A)45 ins(A)22CCT(A)38 insAC(A)19
GRCh38.p14 chr 1 NC_000001.11:g.109138835_109138851= NC_000001.11:g.109138847_109138851del NC_000001.11:g.109138848_109138851del NC_000001.11:g.109138849_109138851del NC_000001.11:g.109138850_109138851del NC_000001.11:g.109138851del NC_000001.11:g.109138851dup NC_000001.11:g.109138850_109138851dup NC_000001.11:g.109138849_109138851dup NC_000001.11:g.109138848_109138851dup NC_000001.11:g.109138847_109138851dup NC_000001.11:g.109138846_109138851dup NC_000001.11:g.109138845_109138851dup NC_000001.11:g.109138844_109138851dup NC_000001.11:g.109138843_109138851dup NC_000001.11:g.109138842_109138851dup NC_000001.11:g.109138841_109138851dup NC_000001.11:g.109138840_109138851dup NC_000001.11:g.109138839_109138851dup NC_000001.11:g.109138838_109138851dup NC_000001.11:g.109138837_109138851dup NC_000001.11:g.109138836_109138851dup NC_000001.11:g.109138835_109138851dup NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAA NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAA NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAA NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAA NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAA NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAA NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.11:g.109138851_109138852insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.11:g.109138835_109138851A[39]CCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1] NC_000001.11:g.109138835_109138851A[18]CAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 1 NC_000001.10:g.109681457_109681473= NC_000001.10:g.109681469_109681473del NC_000001.10:g.109681470_109681473del NC_000001.10:g.109681471_109681473del NC_000001.10:g.109681472_109681473del NC_000001.10:g.109681473del NC_000001.10:g.109681473dup NC_000001.10:g.109681472_109681473dup NC_000001.10:g.109681471_109681473dup NC_000001.10:g.109681470_109681473dup NC_000001.10:g.109681469_109681473dup NC_000001.10:g.109681468_109681473dup NC_000001.10:g.109681467_109681473dup NC_000001.10:g.109681466_109681473dup NC_000001.10:g.109681465_109681473dup NC_000001.10:g.109681464_109681473dup NC_000001.10:g.109681463_109681473dup NC_000001.10:g.109681462_109681473dup NC_000001.10:g.109681461_109681473dup NC_000001.10:g.109681460_109681473dup NC_000001.10:g.109681459_109681473dup NC_000001.10:g.109681458_109681473dup NC_000001.10:g.109681457_109681473dup NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAA NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAA NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAA NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAA NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAA NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAA NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.10:g.109681473_109681474insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000001.10:g.109681457_109681473A[39]CCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1] NC_000001.10:g.109681457_109681473A[18]CAAAAAAAAAAAAAAAAAAA[1]
ELAPOR1 RefSeqGene NG_032763.1:g.29873_29889= NG_032763.1:g.29885_29889del NG_032763.1:g.29886_29889del NG_032763.1:g.29887_29889del NG_032763.1:g.29888_29889del NG_032763.1:g.29889del NG_032763.1:g.29889dup NG_032763.1:g.29888_29889dup NG_032763.1:g.29887_29889dup NG_032763.1:g.29886_29889dup NG_032763.1:g.29885_29889dup NG_032763.1:g.29884_29889dup NG_032763.1:g.29883_29889dup NG_032763.1:g.29882_29889dup NG_032763.1:g.29881_29889dup NG_032763.1:g.29880_29889dup NG_032763.1:g.29879_29889dup NG_032763.1:g.29878_29889dup NG_032763.1:g.29877_29889dup NG_032763.1:g.29876_29889dup NG_032763.1:g.29875_29889dup NG_032763.1:g.29874_29889dup NG_032763.1:g.29873_29889dup NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAA NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAA NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAA NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAA NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAA NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAA NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAA NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAA NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAA NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAA NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAA NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NG_032763.1:g.29889_29890insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NG_032763.1:g.29873_29889A[39]CCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1] NG_032763.1:g.29873_29889A[18]CAAAAAAAAAAAAAAAAAAA[1]
KIAA1324 transcript variant 2 NM_001267048.1:c.154-23059= NM_001267048.1:c.154-23047_154-23043del NM_001267048.1:c.154-23046_154-23043del NM_001267048.1:c.154-23045_154-23043del NM_001267048.1:c.154-23044_154-23043del NM_001267048.1:c.154-23043del NM_001267048.1:c.154-23043dup NM_001267048.1:c.154-23044_154-23043dup NM_001267048.1:c.154-23045_154-23043dup NM_001267048.1:c.154-23046_154-23043dup NM_001267048.1:c.154-23047_154-23043dup NM_001267048.1:c.154-23048_154-23043dup NM_001267048.1:c.154-23049_154-23043dup NM_001267048.1:c.154-23050_154-23043dup NM_001267048.1:c.154-23051_154-23043dup NM_001267048.1:c.154-23052_154-23043dup NM_001267048.1:c.154-23053_154-23043dup NM_001267048.1:c.154-23054_154-23043dup NM_001267048.1:c.154-23055_154-23043dup NM_001267048.1:c.154-23056_154-23043dup NM_001267048.1:c.154-23057_154-23043dup NM_001267048.1:c.154-23058_154-23043dup NM_001267048.1:c.154-23059_154-23043dup NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAACCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.1:c.154-23043_154-23042insACAAAAAAAAAAAAAAAAAAA
ELAPOR1 transcript variant 2 NM_001267048.2:c.154-23059= NM_001267048.2:c.154-23047_154-23043del NM_001267048.2:c.154-23046_154-23043del NM_001267048.2:c.154-23045_154-23043del NM_001267048.2:c.154-23044_154-23043del NM_001267048.2:c.154-23043del NM_001267048.2:c.154-23043dup NM_001267048.2:c.154-23044_154-23043dup NM_001267048.2:c.154-23045_154-23043dup NM_001267048.2:c.154-23046_154-23043dup NM_001267048.2:c.154-23047_154-23043dup NM_001267048.2:c.154-23048_154-23043dup NM_001267048.2:c.154-23049_154-23043dup NM_001267048.2:c.154-23050_154-23043dup NM_001267048.2:c.154-23051_154-23043dup NM_001267048.2:c.154-23052_154-23043dup NM_001267048.2:c.154-23053_154-23043dup NM_001267048.2:c.154-23054_154-23043dup NM_001267048.2:c.154-23055_154-23043dup NM_001267048.2:c.154-23056_154-23043dup NM_001267048.2:c.154-23057_154-23043dup NM_001267048.2:c.154-23058_154-23043dup NM_001267048.2:c.154-23059_154-23043dup NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAACCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001267048.2:c.154-23043_154-23042insACAAAAAAAAAAAAAAAAAAA
ELAPOR1 transcript variant 4 NM_001284352.2:c.-33+24499= NM_001284352.2:c.-33+24511_-33+24515del NM_001284352.2:c.-33+24512_-33+24515del NM_001284352.2:c.-33+24513_-33+24515del NM_001284352.2:c.-33+24514_-33+24515del NM_001284352.2:c.-33+24515del NM_001284352.2:c.-33+24515dup NM_001284352.2:c.-33+24514_-33+24515dup NM_001284352.2:c.-33+24513_-33+24515dup NM_001284352.2:c.-33+24512_-33+24515dup NM_001284352.2:c.-33+24511_-33+24515dup NM_001284352.2:c.-33+24510_-33+24515dup NM_001284352.2:c.-33+24509_-33+24515dup NM_001284352.2:c.-33+24508_-33+24515dup NM_001284352.2:c.-33+24507_-33+24515dup NM_001284352.2:c.-33+24506_-33+24515dup NM_001284352.2:c.-33+24505_-33+24515dup NM_001284352.2:c.-33+24504_-33+24515dup NM_001284352.2:c.-33+24503_-33+24515dup NM_001284352.2:c.-33+24502_-33+24515dup NM_001284352.2:c.-33+24501_-33+24515dup NM_001284352.2:c.-33+24500_-33+24515dup NM_001284352.2:c.-33+24499_-33+24515dup NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insAAAAAAAAAAAAAAAAAAAAAACCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_001284352.2:c.-33+24515_-33+24516insACAAAAAAAAAAAAAAAAAAA
KIAA1324 transcript variant 1 NM_020775.4:c.154-23059= NM_020775.4:c.154-23047_154-23043del NM_020775.4:c.154-23046_154-23043del NM_020775.4:c.154-23045_154-23043del NM_020775.4:c.154-23044_154-23043del NM_020775.4:c.154-23043del NM_020775.4:c.154-23043dup NM_020775.4:c.154-23044_154-23043dup NM_020775.4:c.154-23045_154-23043dup NM_020775.4:c.154-23046_154-23043dup NM_020775.4:c.154-23047_154-23043dup NM_020775.4:c.154-23048_154-23043dup NM_020775.4:c.154-23049_154-23043dup NM_020775.4:c.154-23050_154-23043dup NM_020775.4:c.154-23051_154-23043dup NM_020775.4:c.154-23052_154-23043dup NM_020775.4:c.154-23053_154-23043dup NM_020775.4:c.154-23054_154-23043dup NM_020775.4:c.154-23055_154-23043dup NM_020775.4:c.154-23056_154-23043dup NM_020775.4:c.154-23057_154-23043dup NM_020775.4:c.154-23058_154-23043dup NM_020775.4:c.154-23059_154-23043dup NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAACCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.4:c.154-23043_154-23042insACAAAAAAAAAAAAAAAAAAA
ELAPOR1 transcript variant 1 NM_020775.5:c.154-23059= NM_020775.5:c.154-23047_154-23043del NM_020775.5:c.154-23046_154-23043del NM_020775.5:c.154-23045_154-23043del NM_020775.5:c.154-23044_154-23043del NM_020775.5:c.154-23043del NM_020775.5:c.154-23043dup NM_020775.5:c.154-23044_154-23043dup NM_020775.5:c.154-23045_154-23043dup NM_020775.5:c.154-23046_154-23043dup NM_020775.5:c.154-23047_154-23043dup NM_020775.5:c.154-23048_154-23043dup NM_020775.5:c.154-23049_154-23043dup NM_020775.5:c.154-23050_154-23043dup NM_020775.5:c.154-23051_154-23043dup NM_020775.5:c.154-23052_154-23043dup NM_020775.5:c.154-23053_154-23043dup NM_020775.5:c.154-23054_154-23043dup NM_020775.5:c.154-23055_154-23043dup NM_020775.5:c.154-23056_154-23043dup NM_020775.5:c.154-23057_154-23043dup NM_020775.5:c.154-23058_154-23043dup NM_020775.5:c.154-23059_154-23043dup NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAACCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NM_020775.5:c.154-23043_154-23042insACAAAAAAAAAAAAAAAAAAA
ELAPOR1 transcript variant X1 XM_011541825.3:c.154-23059= XM_011541825.3:c.154-23047_154-23043del XM_011541825.3:c.154-23046_154-23043del XM_011541825.3:c.154-23045_154-23043del XM_011541825.3:c.154-23044_154-23043del XM_011541825.3:c.154-23043del XM_011541825.3:c.154-23043dup XM_011541825.3:c.154-23044_154-23043dup XM_011541825.3:c.154-23045_154-23043dup XM_011541825.3:c.154-23046_154-23043dup XM_011541825.3:c.154-23047_154-23043dup XM_011541825.3:c.154-23048_154-23043dup XM_011541825.3:c.154-23049_154-23043dup XM_011541825.3:c.154-23050_154-23043dup XM_011541825.3:c.154-23051_154-23043dup XM_011541825.3:c.154-23052_154-23043dup XM_011541825.3:c.154-23053_154-23043dup XM_011541825.3:c.154-23054_154-23043dup XM_011541825.3:c.154-23055_154-23043dup XM_011541825.3:c.154-23056_154-23043dup XM_011541825.3:c.154-23057_154-23043dup XM_011541825.3:c.154-23058_154-23043dup XM_011541825.3:c.154-23059_154-23043dup XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAACCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541825.3:c.154-23043_154-23042insACAAAAAAAAAAAAAAAAAAA
ELAPOR1 transcript variant X2 XM_011541826.4:c.154-23059= XM_011541826.4:c.154-23047_154-23043del XM_011541826.4:c.154-23046_154-23043del XM_011541826.4:c.154-23045_154-23043del XM_011541826.4:c.154-23044_154-23043del XM_011541826.4:c.154-23043del XM_011541826.4:c.154-23043dup XM_011541826.4:c.154-23044_154-23043dup XM_011541826.4:c.154-23045_154-23043dup XM_011541826.4:c.154-23046_154-23043dup XM_011541826.4:c.154-23047_154-23043dup XM_011541826.4:c.154-23048_154-23043dup XM_011541826.4:c.154-23049_154-23043dup XM_011541826.4:c.154-23050_154-23043dup XM_011541826.4:c.154-23051_154-23043dup XM_011541826.4:c.154-23052_154-23043dup XM_011541826.4:c.154-23053_154-23043dup XM_011541826.4:c.154-23054_154-23043dup XM_011541826.4:c.154-23055_154-23043dup XM_011541826.4:c.154-23056_154-23043dup XM_011541826.4:c.154-23057_154-23043dup XM_011541826.4:c.154-23058_154-23043dup XM_011541826.4:c.154-23059_154-23043dup XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAACCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541826.4:c.154-23043_154-23042insACAAAAAAAAAAAAAAAAAAA
ELAPOR1 transcript variant X3 XM_011541827.3:c.154-23059= XM_011541827.3:c.154-23047_154-23043del XM_011541827.3:c.154-23046_154-23043del XM_011541827.3:c.154-23045_154-23043del XM_011541827.3:c.154-23044_154-23043del XM_011541827.3:c.154-23043del XM_011541827.3:c.154-23043dup XM_011541827.3:c.154-23044_154-23043dup XM_011541827.3:c.154-23045_154-23043dup XM_011541827.3:c.154-23046_154-23043dup XM_011541827.3:c.154-23047_154-23043dup XM_011541827.3:c.154-23048_154-23043dup XM_011541827.3:c.154-23049_154-23043dup XM_011541827.3:c.154-23050_154-23043dup XM_011541827.3:c.154-23051_154-23043dup XM_011541827.3:c.154-23052_154-23043dup XM_011541827.3:c.154-23053_154-23043dup XM_011541827.3:c.154-23054_154-23043dup XM_011541827.3:c.154-23055_154-23043dup XM_011541827.3:c.154-23056_154-23043dup XM_011541827.3:c.154-23057_154-23043dup XM_011541827.3:c.154-23058_154-23043dup XM_011541827.3:c.154-23059_154-23043dup XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insAAAAAAAAAAAAAAAAAAAAAACCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA XM_011541827.3:c.154-23043_154-23042insACAAAAAAAAAAAAAAAAAAA
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

85 SubSNP, 56 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95240000 Oct 11, 2018 (152)
2 GMI ss287679141 May 09, 2011 (134)
3 SSMP ss663108972 Apr 01, 2015 (144)
4 1000GENOMES ss1367812409 Aug 21, 2014 (142)
5 EVA_UK10K_ALSPAC ss1701087862 Apr 01, 2015 (144)
6 EVA_UK10K_TWINSUK ss1701087863 Apr 01, 2015 (144)
7 EVA_UK10K_ALSPAC ss1701087866 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1701087867 Apr 01, 2015 (144)
9 SYSTEMSBIOZJU ss2624460503 Nov 08, 2017 (151)
10 SWEGEN ss2987415131 Nov 08, 2017 (151)
11 EVA_DECODE ss3687502039 Jul 12, 2019 (153)
12 EVA_DECODE ss3687502040 Jul 12, 2019 (153)
13 EVA_DECODE ss3687502041 Jul 12, 2019 (153)
14 EVA_DECODE ss3687502042 Jul 12, 2019 (153)
15 PACBIO ss3783515328 Jul 12, 2019 (153)
16 PACBIO ss3789157796 Jul 12, 2019 (153)
17 PACBIO ss3789157797 Jul 12, 2019 (153)
18 PACBIO ss3794030701 Jul 12, 2019 (153)
19 PACBIO ss3794030702 Jul 12, 2019 (153)
20 KHV_HUMAN_GENOMES ss3799659065 Jul 12, 2019 (153)
21 EVA ss3826361863 Apr 25, 2020 (154)
22 GNOMAD ss4000191931 Apr 25, 2021 (155)
23 GNOMAD ss4000191932 Apr 25, 2021 (155)
24 GNOMAD ss4000191933 Apr 25, 2021 (155)
25 GNOMAD ss4000191934 Apr 25, 2021 (155)
26 GNOMAD ss4000191935 Apr 25, 2021 (155)
27 GNOMAD ss4000191936 Apr 25, 2021 (155)
28 GNOMAD ss4000191937 Apr 25, 2021 (155)
29 GNOMAD ss4000191938 Apr 25, 2021 (155)
30 GNOMAD ss4000191939 Apr 25, 2021 (155)
31 GNOMAD ss4000191940 Apr 25, 2021 (155)
32 GNOMAD ss4000191941 Apr 25, 2021 (155)
33 GNOMAD ss4000191942 Apr 25, 2021 (155)
34 GNOMAD ss4000191943 Apr 25, 2021 (155)
35 GNOMAD ss4000191944 Apr 25, 2021 (155)
36 GNOMAD ss4000191945 Apr 25, 2021 (155)
37 GNOMAD ss4000191946 Apr 25, 2021 (155)
38 GNOMAD ss4000191947 Apr 25, 2021 (155)
39 GNOMAD ss4000191948 Apr 25, 2021 (155)
40 GNOMAD ss4000191949 Apr 25, 2021 (155)
41 GNOMAD ss4000191950 Apr 25, 2021 (155)
42 GNOMAD ss4000191951 Apr 25, 2021 (155)
43 GNOMAD ss4000191952 Apr 25, 2021 (155)
44 GNOMAD ss4000191953 Apr 25, 2021 (155)
45 GNOMAD ss4000191954 Apr 25, 2021 (155)
46 GNOMAD ss4000191955 Apr 25, 2021 (155)
47 GNOMAD ss4000191956 Apr 25, 2021 (155)
48 GNOMAD ss4000191957 Apr 25, 2021 (155)
49 GNOMAD ss4000191958 Apr 25, 2021 (155)
50 GNOMAD ss4000191959 Apr 25, 2021 (155)
51 GNOMAD ss4000191960 Apr 25, 2021 (155)
52 GNOMAD ss4000191961 Apr 25, 2021 (155)
53 GNOMAD ss4000191962 Apr 25, 2021 (155)
54 GNOMAD ss4000191963 Apr 25, 2021 (155)
55 GNOMAD ss4000191964 Apr 25, 2021 (155)
56 GNOMAD ss4000191965 Apr 25, 2021 (155)
57 GNOMAD ss4000191968 Apr 25, 2021 (155)
58 GNOMAD ss4000191969 Apr 25, 2021 (155)
59 GNOMAD ss4000191970 Apr 25, 2021 (155)
60 GNOMAD ss4000191971 Apr 25, 2021 (155)
61 GNOMAD ss4000191972 Apr 25, 2021 (155)
62 TOMMO_GENOMICS ss5145616891 Apr 25, 2021 (155)
63 TOMMO_GENOMICS ss5145616892 Apr 25, 2021 (155)
64 TOMMO_GENOMICS ss5145616893 Apr 25, 2021 (155)
65 TOMMO_GENOMICS ss5145616894 Apr 25, 2021 (155)
66 1000G_HIGH_COVERAGE ss5243561094 Oct 12, 2022 (156)
67 1000G_HIGH_COVERAGE ss5243561095 Oct 12, 2022 (156)
68 1000G_HIGH_COVERAGE ss5243561096 Oct 12, 2022 (156)
69 1000G_HIGH_COVERAGE ss5243561097 Oct 12, 2022 (156)
70 1000G_HIGH_COVERAGE ss5243561098 Oct 12, 2022 (156)
71 1000G_HIGH_COVERAGE ss5243561099 Oct 12, 2022 (156)
72 HUGCELL_USP ss5444489241 Oct 12, 2022 (156)
73 HUGCELL_USP ss5444489242 Oct 12, 2022 (156)
74 HUGCELL_USP ss5444489243 Oct 12, 2022 (156)
75 HUGCELL_USP ss5444489244 Oct 12, 2022 (156)
76 HUGCELL_USP ss5444489245 Oct 12, 2022 (156)
77 HUGCELL_USP ss5444489246 Oct 12, 2022 (156)
78 TOMMO_GENOMICS ss5670865691 Oct 12, 2022 (156)
79 TOMMO_GENOMICS ss5670865693 Oct 12, 2022 (156)
80 TOMMO_GENOMICS ss5670865694 Oct 12, 2022 (156)
81 TOMMO_GENOMICS ss5670865695 Oct 12, 2022 (156)
82 TOMMO_GENOMICS ss5670865696 Oct 12, 2022 (156)
83 EVA ss5832464431 Oct 12, 2022 (156)
84 EVA ss5832464432 Oct 12, 2022 (156)
85 EVA ss5832464433 Oct 12, 2022 (156)
86 1000Genomes NC_000001.10 - 109681457 Oct 11, 2018 (152)
87 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 1739342 (NC_000001.10:109681456::A 3285/3854)
Row 1739343 (NC_000001.10:109681456::AA 361/3854)

- Oct 11, 2018 (152)
88 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 1739342 (NC_000001.10:109681456::A 3285/3854)
Row 1739343 (NC_000001.10:109681456::AA 361/3854)

- Oct 11, 2018 (152)
89 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
90 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
91 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
92 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
93 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
94 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
95 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
96 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
97 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
98 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
99 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
100 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
101 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
102 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
103 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
104 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
105 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
106 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
107 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
108 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
109 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
110 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
111 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
112 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
113 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
114 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
115 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
116 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
117 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
118 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
119 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
120 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
121 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
122 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
123 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
124 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
125 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
126 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
127 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
128 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
129 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 22278163 (NC_000001.11:109138834::A 61572/98496)
Row 22278164 (NC_000001.11:109138834::AA 260/98426)
Row 22278165 (NC_000001.11:109138834::AAA 7/98558)...

- Apr 25, 2021 (155)
130 8.3KJPN

Submission ignored due to conflicting rows:
Row 3586198 (NC_000001.10:109681456::A 13237/15984)
Row 3586199 (NC_000001.10:109681456::AA 20/15984)
Row 3586200 (NC_000001.10:109681456:A: 16/15984)...

- Apr 25, 2021 (155)
131 8.3KJPN

Submission ignored due to conflicting rows:
Row 3586198 (NC_000001.10:109681456::A 13237/15984)
Row 3586199 (NC_000001.10:109681456::AA 20/15984)
Row 3586200 (NC_000001.10:109681456:A: 16/15984)...

- Apr 25, 2021 (155)
132 8.3KJPN

Submission ignored due to conflicting rows:
Row 3586198 (NC_000001.10:109681456::A 13237/15984)
Row 3586199 (NC_000001.10:109681456::AA 20/15984)
Row 3586200 (NC_000001.10:109681456:A: 16/15984)...

- Apr 25, 2021 (155)
133 8.3KJPN

Submission ignored due to conflicting rows:
Row 3586198 (NC_000001.10:109681456::A 13237/15984)
Row 3586199 (NC_000001.10:109681456::AA 20/15984)
Row 3586200 (NC_000001.10:109681456:A: 16/15984)...

- Apr 25, 2021 (155)
134 14KJPN

Submission ignored due to conflicting rows:
Row 4702795 (NC_000001.11:109138834::A 23653/28196)
Row 4702797 (NC_000001.11:109138834::AA 27/28196)
Row 4702798 (NC_000001.11:109138834:A: 22/28196)...

- Oct 12, 2022 (156)
135 14KJPN

Submission ignored due to conflicting rows:
Row 4702795 (NC_000001.11:109138834::A 23653/28196)
Row 4702797 (NC_000001.11:109138834::AA 27/28196)
Row 4702798 (NC_000001.11:109138834:A: 22/28196)...

- Oct 12, 2022 (156)
136 14KJPN

Submission ignored due to conflicting rows:
Row 4702795 (NC_000001.11:109138834::A 23653/28196)
Row 4702797 (NC_000001.11:109138834::AA 27/28196)
Row 4702798 (NC_000001.11:109138834:A: 22/28196)...

- Oct 12, 2022 (156)
137 14KJPN

Submission ignored due to conflicting rows:
Row 4702795 (NC_000001.11:109138834::A 23653/28196)
Row 4702797 (NC_000001.11:109138834::AA 27/28196)
Row 4702798 (NC_000001.11:109138834:A: 22/28196)...

- Oct 12, 2022 (156)
138 14KJPN

Submission ignored due to conflicting rows:
Row 4702795 (NC_000001.11:109138834::A 23653/28196)
Row 4702797 (NC_000001.11:109138834::AA 27/28196)
Row 4702798 (NC_000001.11:109138834:A: 22/28196)...

- Oct 12, 2022 (156)
139 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 1739342 (NC_000001.10:109681456::A 3145/3708)
Row 1739343 (NC_000001.10:109681456::AA 346/3708)

- Oct 11, 2018 (152)
140 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 1739342 (NC_000001.10:109681456::A 3145/3708)
Row 1739343 (NC_000001.10:109681456::AA 346/3708)

- Oct 11, 2018 (152)
141 ALFA NC_000001.11 - 109138835 Apr 25, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4000191972 NC_000001.11:109138834:AAAAA: NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4000191971 NC_000001.11:109138834:AAAA: NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4000191970 NC_000001.11:109138834:AAA: NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4000191969 NC_000001.11:109138834:AA: NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss2987415131, ss5145616893 NC_000001.10:109681456:A: NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3687502042, ss4000191968, ss5243561097, ss5444489246, ss5670865694 NC_000001.11:109138834:A: NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss287679141 NT_032977.9:79653374:A: NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
3148817, ss663108972, ss1367812409, ss1701087862, ss1701087863, ss2624460503, ss3789157796, ss3794030701, ss3826361863, ss5145616891, ss5832464431 NC_000001.10:109681456::A NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3799659065, ss4000191931, ss5243561094, ss5444489241, ss5670865691 NC_000001.11:109138834::A NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3687502041 NC_000001.11:109138835::A NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss1701087866, ss1701087867, ss5145616892, ss5832464432 NC_000001.10:109681456::AA NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4000191932, ss5444489242, ss5670865693 NC_000001.11:109138834::AA NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3687502040 NC_000001.11:109138835::AA NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss5832464433 NC_000001.10:109681456::AAA NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

ss4000191933, ss5670865696 NC_000001.11:109138834::AAA NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4000191934 NC_000001.11:109138834::AAAA NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191935 NC_000001.11:109138834::AAAAA NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191936, ss5243561098 NC_000001.11:109138834::AAAAAA NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191937, ss5243561096, ss5444489243 NC_000001.11:109138834::AAAAAAA NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191938, ss5243561095, ss5444489244 NC_000001.11:109138834::AAAAAAAA NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3687502039 NC_000001.11:109138835::AAAAAAAA NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss95240000 NT_032977.9:79653391::AAAAAAAA NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191939, ss5444489245 NC_000001.11:109138834::AAAAAAAAA NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191940 NC_000001.11:109138834::AAAAAAAAAA NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191941 NC_000001.11:109138834::AAAAAAAAAAA NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191942 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191943 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191944 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191945 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3783515328 NC_000001.10:109681456::AAAAAAAAAA…

NC_000001.10:109681456::AAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191946 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3789157797, ss3794030702, ss5145616894 NC_000001.10:109681456::AAAAAAAAAA…

NC_000001.10:109681456::AAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191947, ss5243561099, ss5670865695 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191948 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191949 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
877618949 NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191950 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191951 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191952 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191953 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191954 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191955 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191956 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191957 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191958 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191959 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191960 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191961 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191962 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191963 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191964 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTAAAAAAAAAAAAAAAAAAAAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4000191965 NC_000001.11:109138834::AAAAAAAAAA…

NC_000001.11:109138834::AAAAAAAAAAAAAAAAAACAA

NC_000001.11:109138834:AAAAAAAAAAA…

NC_000001.11:109138834:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAA

(self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs150398954

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post820+afb47a3d