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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.

rs55974947

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr18:77248316-77248341 (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)14 / del(A)13 / del(A)12 / d…

del(A)14 / del(A)13 / del(A)12 / del(A)11 / del(A)10 / del(A)9 / del(A)8 / del(A)7 / del(A)6 / 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)15 / dup(A)17 / dup(A)18 / dup(A)20 / dup(A)21 / dup(A)22 / dup(A)23 / dup(A)25 / dup(A)26 / ins(A)32 / ins(A)8C(A)10T(A)38 / ins(A)8C(A)9T(A)37 / ins(A)7C(A)45 / ins(A)7C(A)9T(A)36 / insC(A)56

Variation Type
Indel Insertion and Deletion
Frequency
del(A)14=0.0000 (0/2822, ALFA)
del(A)13=0.0000 (0/2822, ALFA)
del(A)12=0.0000 (0/2822, ALFA) (+ 18 more)
del(A)11=0.0000 (0/2822, ALFA)
del(A)10=0.0000 (0/2822, ALFA)
del(A)9=0.0000 (0/2822, ALFA)
del(A)8=0.0000 (0/2822, ALFA)
del(A)7=0.0000 (0/2822, ALFA)
del(A)6=0.0000 (0/2822, ALFA)
del(A)5=0.0000 (0/2822, ALFA)
del(A)4=0.0000 (0/2822, ALFA)
delAAA=0.0000 (0/2822, ALFA)
delAA=0.0000 (0/2822, ALFA)
delA=0.0000 (0/2822, ALFA)
dupA=0.0000 (0/2822, ALFA)
dupAA=0.0000 (0/2822, ALFA)
dupAAA=0.0000 (0/2822, ALFA)
dup(A)4=0.0000 (0/2822, ALFA)
dup(A)5=0.0000 (0/2822, ALFA)
dup(A)6=0.0000 (0/2822, ALFA)
dup(A)8=0.0000 (0/2822, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
GALR1 : 2KB Upstream Variant
LOC124904329 : Non Coding Transcript 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 2822 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 2122 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 462 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 16 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 446 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 10 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
East Asian Sub 10 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 1 Sub 36 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 74 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 10 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Sub 108 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 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
Allele Frequency Aggregator Total Global 2822 (A)26=1.0000 del(A)14=0.0000, del(A)13=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000, dup(A)6=0.0000, dup(A)8=0.0000
Allele Frequency Aggregator European Sub 2122 (A)26=1.0000 del(A)14=0.0000, del(A)13=0.0000, del(A)12=0.0000, del(A)11=0.0000, del(A)10=0.0000, del(A)9=0.0000, del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000, dup(A)5=0.0000, dup(A)6=0.0000, dup(A)8=0.0000
Allele Frequency Aggregator African Sub 462 (A)26=1.000 del(A)14=0.000, del(A)13=0.000, del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=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)5=0.000, dup(A)6=0.000, dup(A)8=0.000
Allele Frequency Aggregator Other Sub 108 (A)26=1.000 del(A)14=0.000, del(A)13=0.000, del(A)12=0.000, del(A)11=0.000, del(A)10=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=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)5=0.000, dup(A)6=0.000, dup(A)8=0.000
Allele Frequency Aggregator Latin American 2 Sub 74 (A)26=1.00 del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=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)5=0.00, dup(A)6=0.00, dup(A)8=0.00
Allele Frequency Aggregator Latin American 1 Sub 36 (A)26=1.00 del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)10=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=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)5=0.00, dup(A)6=0.00, dup(A)8=0.00
Allele Frequency Aggregator South Asian Sub 10 (A)26=1.0 del(A)14=0.0, del(A)13=0.0, del(A)12=0.0, del(A)11=0.0, del(A)10=0.0, del(A)9=0.0, del(A)8=0.0, del(A)7=0.0, del(A)6=0.0, del(A)5=0.0, del(A)4=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)5=0.0, dup(A)6=0.0, dup(A)8=0.0
Allele Frequency Aggregator Asian Sub 10 (A)26=1.0 del(A)14=0.0, del(A)13=0.0, del(A)12=0.0, del(A)11=0.0, del(A)10=0.0, del(A)9=0.0, del(A)8=0.0, del(A)7=0.0, del(A)6=0.0, del(A)5=0.0, del(A)4=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)5=0.0, dup(A)6=0.0, dup(A)8=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 18 NC_000018.10:g.77248328_77248341del
GRCh38.p14 chr 18 NC_000018.10:g.77248329_77248341del
GRCh38.p14 chr 18 NC_000018.10:g.77248330_77248341del
GRCh38.p14 chr 18 NC_000018.10:g.77248331_77248341del
GRCh38.p14 chr 18 NC_000018.10:g.77248332_77248341del
GRCh38.p14 chr 18 NC_000018.10:g.77248333_77248341del
GRCh38.p14 chr 18 NC_000018.10:g.77248334_77248341del
GRCh38.p14 chr 18 NC_000018.10:g.77248335_77248341del
GRCh38.p14 chr 18 NC_000018.10:g.77248336_77248341del
GRCh38.p14 chr 18 NC_000018.10:g.77248337_77248341del
GRCh38.p14 chr 18 NC_000018.10:g.77248338_77248341del
GRCh38.p14 chr 18 NC_000018.10:g.77248339_77248341del
GRCh38.p14 chr 18 NC_000018.10:g.77248340_77248341del
GRCh38.p14 chr 18 NC_000018.10:g.77248341del
GRCh38.p14 chr 18 NC_000018.10:g.77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248340_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248339_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248338_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248337_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248336_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248335_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248334_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248333_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248332_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248331_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248327_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248325_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248324_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248322_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248321_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248320_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248319_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248317_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248316_77248341dup
GRCh38.p14 chr 18 NC_000018.10:g.77248341_77248342insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 18 NC_000018.10:g.77248316_77248341A[34]CAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh38.p14 chr 18 NC_000018.10:g.77248316_77248341A[34]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh38.p14 chr 18 NC_000018.10:g.77248316_77248341A[33]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh38.p14 chr 18 NC_000018.10:g.77248316_77248341A[33]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh38.p14 chr 18 NC_000018.10:g.77248316_77248341A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 18 NC_000018.9:g.74960284_74960297del
GRCh37.p13 chr 18 NC_000018.9:g.74960285_74960297del
GRCh37.p13 chr 18 NC_000018.9:g.74960286_74960297del
GRCh37.p13 chr 18 NC_000018.9:g.74960287_74960297del
GRCh37.p13 chr 18 NC_000018.9:g.74960288_74960297del
GRCh37.p13 chr 18 NC_000018.9:g.74960289_74960297del
GRCh37.p13 chr 18 NC_000018.9:g.74960290_74960297del
GRCh37.p13 chr 18 NC_000018.9:g.74960291_74960297del
GRCh37.p13 chr 18 NC_000018.9:g.74960292_74960297del
GRCh37.p13 chr 18 NC_000018.9:g.74960293_74960297del
GRCh37.p13 chr 18 NC_000018.9:g.74960294_74960297del
GRCh37.p13 chr 18 NC_000018.9:g.74960295_74960297del
GRCh37.p13 chr 18 NC_000018.9:g.74960296_74960297del
GRCh37.p13 chr 18 NC_000018.9:g.74960297del
GRCh37.p13 chr 18 NC_000018.9:g.74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960296_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960295_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960294_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960293_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960292_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960291_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960290_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960289_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960288_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960287_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960283_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960281_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960280_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960278_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960277_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960276_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960275_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960273_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960272_74960297dup
GRCh37.p13 chr 18 NC_000018.9:g.74960297_74960298insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 18 NC_000018.9:g.74960272_74960297A[34]CAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 18 NC_000018.9:g.74960272_74960297A[34]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 18 NC_000018.9:g.74960272_74960297A[33]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 18 NC_000018.9:g.74960272_74960297A[33]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 18 NC_000018.9:g.74960272_74960297A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GALR1 RefSeqGene NG_009223.1:g.3277_3290del
GALR1 RefSeqGene NG_009223.1:g.3278_3290del
GALR1 RefSeqGene NG_009223.1:g.3279_3290del
GALR1 RefSeqGene NG_009223.1:g.3280_3290del
GALR1 RefSeqGene NG_009223.1:g.3281_3290del
GALR1 RefSeqGene NG_009223.1:g.3282_3290del
GALR1 RefSeqGene NG_009223.1:g.3283_3290del
GALR1 RefSeqGene NG_009223.1:g.3284_3290del
GALR1 RefSeqGene NG_009223.1:g.3285_3290del
GALR1 RefSeqGene NG_009223.1:g.3286_3290del
GALR1 RefSeqGene NG_009223.1:g.3287_3290del
GALR1 RefSeqGene NG_009223.1:g.3288_3290del
GALR1 RefSeqGene NG_009223.1:g.3289_3290del
GALR1 RefSeqGene NG_009223.1:g.3290del
GALR1 RefSeqGene NG_009223.1:g.3290dup
GALR1 RefSeqGene NG_009223.1:g.3289_3290dup
GALR1 RefSeqGene NG_009223.1:g.3288_3290dup
GALR1 RefSeqGene NG_009223.1:g.3287_3290dup
GALR1 RefSeqGene NG_009223.1:g.3286_3290dup
GALR1 RefSeqGene NG_009223.1:g.3285_3290dup
GALR1 RefSeqGene NG_009223.1:g.3284_3290dup
GALR1 RefSeqGene NG_009223.1:g.3283_3290dup
GALR1 RefSeqGene NG_009223.1:g.3282_3290dup
GALR1 RefSeqGene NG_009223.1:g.3281_3290dup
GALR1 RefSeqGene NG_009223.1:g.3280_3290dup
GALR1 RefSeqGene NG_009223.1:g.3276_3290dup
GALR1 RefSeqGene NG_009223.1:g.3274_3290dup
GALR1 RefSeqGene NG_009223.1:g.3273_3290dup
GALR1 RefSeqGene NG_009223.1:g.3271_3290dup
GALR1 RefSeqGene NG_009223.1:g.3270_3290dup
GALR1 RefSeqGene NG_009223.1:g.3269_3290dup
GALR1 RefSeqGene NG_009223.1:g.3268_3290dup
GALR1 RefSeqGene NG_009223.1:g.3266_3290dup
GALR1 RefSeqGene NG_009223.1:g.3265_3290dup
GALR1 RefSeqGene NG_009223.1:g.3290_3291insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GALR1 RefSeqGene NG_009223.1:g.3265_3290A[34]CAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GALR1 RefSeqGene NG_009223.1:g.3265_3290A[34]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GALR1 RefSeqGene NG_009223.1:g.3265_3290A[33]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GALR1 RefSeqGene NG_009223.1:g.3265_3290A[33]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GALR1 RefSeqGene NG_009223.1:g.3265_3290A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
Gene: GALR1, galanin receptor 1 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
GALR1 transcript NM_001480.4:c. N/A Upstream Transcript Variant
GALR1 transcript variant X1 XM_017025691.2:c. N/A Upstream Transcript Variant
Gene: LOC124904329, uncharacterized LOC124904329 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC124904329 transcript XR_007066422.1:n.1833_184…

XR_007066422.1:n.1833_1846del

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1834_184…

XR_007066422.1:n.1834_1846del

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1835_184…

XR_007066422.1:n.1835_1846del

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1836_184…

XR_007066422.1:n.1836_1846del

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1837_184…

XR_007066422.1:n.1837_1846del

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1838_184…

XR_007066422.1:n.1838_1846del

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1839_184…

XR_007066422.1:n.1839_1846del

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1840_184…

XR_007066422.1:n.1840_1846del

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1841_184…

XR_007066422.1:n.1841_1846del

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1842_184…

XR_007066422.1:n.1842_1846del

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1843_184…

XR_007066422.1:n.1843_1846del

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1844_184…

XR_007066422.1:n.1844_1846del

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1845_184…

XR_007066422.1:n.1845_1846del

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1846del N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1846dup N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1845_184…

XR_007066422.1:n.1845_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1844_184…

XR_007066422.1:n.1844_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1843_184…

XR_007066422.1:n.1843_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1842_184…

XR_007066422.1:n.1842_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1841_184…

XR_007066422.1:n.1841_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1840_184…

XR_007066422.1:n.1840_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1839_184…

XR_007066422.1:n.1839_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1838_184…

XR_007066422.1:n.1838_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1837_184…

XR_007066422.1:n.1837_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1836_184…

XR_007066422.1:n.1836_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1832_184…

XR_007066422.1:n.1832_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1830_184…

XR_007066422.1:n.1830_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1829_184…

XR_007066422.1:n.1829_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1827_184…

XR_007066422.1:n.1827_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1826_184…

XR_007066422.1:n.1826_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1825_184…

XR_007066422.1:n.1825_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1824_184…

XR_007066422.1:n.1824_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1822_184…

XR_007066422.1:n.1822_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1821_184…

XR_007066422.1:n.1821_1846dup

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1846_184…

XR_007066422.1:n.1846_1847insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1821_184…

XR_007066422.1:n.1821_1846T[38]ATTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1821_184…

XR_007066422.1:n.1821_1846T[37]ATTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1821_184…

XR_007066422.1:n.1821_1846T[45]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1821_184…

XR_007066422.1:n.1821_1846T[36]ATTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

N/A Non Coding Transcript Variant
LOC124904329 transcript XR_007066422.1:n.1821_184…

XR_007066422.1:n.1821_1846T[56]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

N/A Non Coding 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)26= del(A)14 del(A)13 del(A)12 del(A)11 del(A)10 del(A)9 del(A)8 del(A)7 del(A)6 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)15 dup(A)17 dup(A)18 dup(A)20 dup(A)21 dup(A)22 dup(A)23 dup(A)25 dup(A)26 ins(A)32 ins(A)8C(A)10T(A)38 ins(A)8C(A)9T(A)37 ins(A)7C(A)45 ins(A)7C(A)9T(A)36 insC(A)56
GRCh38.p14 chr 18 NC_000018.10:g.77248316_77248341= NC_000018.10:g.77248328_77248341del NC_000018.10:g.77248329_77248341del NC_000018.10:g.77248330_77248341del NC_000018.10:g.77248331_77248341del NC_000018.10:g.77248332_77248341del NC_000018.10:g.77248333_77248341del NC_000018.10:g.77248334_77248341del NC_000018.10:g.77248335_77248341del NC_000018.10:g.77248336_77248341del NC_000018.10:g.77248337_77248341del NC_000018.10:g.77248338_77248341del NC_000018.10:g.77248339_77248341del NC_000018.10:g.77248340_77248341del NC_000018.10:g.77248341del NC_000018.10:g.77248341dup NC_000018.10:g.77248340_77248341dup NC_000018.10:g.77248339_77248341dup NC_000018.10:g.77248338_77248341dup NC_000018.10:g.77248337_77248341dup NC_000018.10:g.77248336_77248341dup NC_000018.10:g.77248335_77248341dup NC_000018.10:g.77248334_77248341dup NC_000018.10:g.77248333_77248341dup NC_000018.10:g.77248332_77248341dup NC_000018.10:g.77248331_77248341dup NC_000018.10:g.77248327_77248341dup NC_000018.10:g.77248325_77248341dup NC_000018.10:g.77248324_77248341dup NC_000018.10:g.77248322_77248341dup NC_000018.10:g.77248321_77248341dup NC_000018.10:g.77248320_77248341dup NC_000018.10:g.77248319_77248341dup NC_000018.10:g.77248317_77248341dup NC_000018.10:g.77248316_77248341dup NC_000018.10:g.77248341_77248342insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000018.10:g.77248316_77248341A[34]CAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1] NC_000018.10:g.77248316_77248341A[34]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1] NC_000018.10:g.77248316_77248341A[33]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1] NC_000018.10:g.77248316_77248341A[33]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1] NC_000018.10:g.77248316_77248341A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 18 NC_000018.9:g.74960272_74960297= NC_000018.9:g.74960284_74960297del NC_000018.9:g.74960285_74960297del NC_000018.9:g.74960286_74960297del NC_000018.9:g.74960287_74960297del NC_000018.9:g.74960288_74960297del NC_000018.9:g.74960289_74960297del NC_000018.9:g.74960290_74960297del NC_000018.9:g.74960291_74960297del NC_000018.9:g.74960292_74960297del NC_000018.9:g.74960293_74960297del NC_000018.9:g.74960294_74960297del NC_000018.9:g.74960295_74960297del NC_000018.9:g.74960296_74960297del NC_000018.9:g.74960297del NC_000018.9:g.74960297dup NC_000018.9:g.74960296_74960297dup NC_000018.9:g.74960295_74960297dup NC_000018.9:g.74960294_74960297dup NC_000018.9:g.74960293_74960297dup NC_000018.9:g.74960292_74960297dup NC_000018.9:g.74960291_74960297dup NC_000018.9:g.74960290_74960297dup NC_000018.9:g.74960289_74960297dup NC_000018.9:g.74960288_74960297dup NC_000018.9:g.74960287_74960297dup NC_000018.9:g.74960283_74960297dup NC_000018.9:g.74960281_74960297dup NC_000018.9:g.74960280_74960297dup NC_000018.9:g.74960278_74960297dup NC_000018.9:g.74960277_74960297dup NC_000018.9:g.74960276_74960297dup NC_000018.9:g.74960275_74960297dup NC_000018.9:g.74960273_74960297dup NC_000018.9:g.74960272_74960297dup NC_000018.9:g.74960297_74960298insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NC_000018.9:g.74960272_74960297A[34]CAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1] NC_000018.9:g.74960272_74960297A[34]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1] NC_000018.9:g.74960272_74960297A[33]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1] NC_000018.9:g.74960272_74960297A[33]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1] NC_000018.9:g.74960272_74960297A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GALR1 RefSeqGene NG_009223.1:g.3265_3290= NG_009223.1:g.3277_3290del NG_009223.1:g.3278_3290del NG_009223.1:g.3279_3290del NG_009223.1:g.3280_3290del NG_009223.1:g.3281_3290del NG_009223.1:g.3282_3290del NG_009223.1:g.3283_3290del NG_009223.1:g.3284_3290del NG_009223.1:g.3285_3290del NG_009223.1:g.3286_3290del NG_009223.1:g.3287_3290del NG_009223.1:g.3288_3290del NG_009223.1:g.3289_3290del NG_009223.1:g.3290del NG_009223.1:g.3290dup NG_009223.1:g.3289_3290dup NG_009223.1:g.3288_3290dup NG_009223.1:g.3287_3290dup NG_009223.1:g.3286_3290dup NG_009223.1:g.3285_3290dup NG_009223.1:g.3284_3290dup NG_009223.1:g.3283_3290dup NG_009223.1:g.3282_3290dup NG_009223.1:g.3281_3290dup NG_009223.1:g.3280_3290dup NG_009223.1:g.3276_3290dup NG_009223.1:g.3274_3290dup NG_009223.1:g.3273_3290dup NG_009223.1:g.3271_3290dup NG_009223.1:g.3270_3290dup NG_009223.1:g.3269_3290dup NG_009223.1:g.3268_3290dup NG_009223.1:g.3266_3290dup NG_009223.1:g.3265_3290dup NG_009223.1:g.3290_3291insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA NG_009223.1:g.3265_3290A[34]CAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1] NG_009223.1:g.3265_3290A[34]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1] NG_009223.1:g.3265_3290A[33]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1] NG_009223.1:g.3265_3290A[33]CAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1] NG_009223.1:g.3265_3290A[26]CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
LOC124904329 transcript XR_007066422.1:n.1821_1846= XR_007066422.1:n.1833_1846del XR_007066422.1:n.1834_1846del XR_007066422.1:n.1835_1846del XR_007066422.1:n.1836_1846del XR_007066422.1:n.1837_1846del XR_007066422.1:n.1838_1846del XR_007066422.1:n.1839_1846del XR_007066422.1:n.1840_1846del XR_007066422.1:n.1841_1846del XR_007066422.1:n.1842_1846del XR_007066422.1:n.1843_1846del XR_007066422.1:n.1844_1846del XR_007066422.1:n.1845_1846del XR_007066422.1:n.1846del XR_007066422.1:n.1846dup XR_007066422.1:n.1845_1846dup XR_007066422.1:n.1844_1846dup XR_007066422.1:n.1843_1846dup XR_007066422.1:n.1842_1846dup XR_007066422.1:n.1841_1846dup XR_007066422.1:n.1840_1846dup XR_007066422.1:n.1839_1846dup XR_007066422.1:n.1838_1846dup XR_007066422.1:n.1837_1846dup XR_007066422.1:n.1836_1846dup XR_007066422.1:n.1832_1846dup XR_007066422.1:n.1830_1846dup XR_007066422.1:n.1829_1846dup XR_007066422.1:n.1827_1846dup XR_007066422.1:n.1826_1846dup XR_007066422.1:n.1825_1846dup XR_007066422.1:n.1824_1846dup XR_007066422.1:n.1822_1846dup XR_007066422.1:n.1821_1846dup XR_007066422.1:n.1846_1847insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT XR_007066422.1:n.1821_1846T[38]ATTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] XR_007066422.1:n.1821_1846T[37]ATTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] XR_007066422.1:n.1821_1846T[45]GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] XR_007066422.1:n.1821_1846T[36]ATTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1] XR_007066422.1:n.1821_1846T[56]GTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
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#.

87 SubSNP, 60 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss77896716 Dec 06, 2007 (129)
2 HGSV ss77919923 Dec 06, 2007 (129)
3 HGSV ss79791125 Dec 15, 2007 (129)
4 HGSV ss80430138 Aug 21, 2014 (142)
5 HUMANGENOME_JCVI ss95717985 Mar 15, 2016 (147)
6 EVA_UK10K_ALSPAC ss1709076504 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1709076594 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1710773029 Apr 01, 2015 (144)
9 EVA_UK10K_TWINSUK ss1710773031 Apr 01, 2015 (144)
10 EVA_UK10K_ALSPAC ss1710773034 Apr 01, 2015 (144)
11 EVA_UK10K_ALSPAC ss1710773036 Apr 01, 2015 (144)
12 SWEGEN ss3016884957 Nov 08, 2017 (151)
13 MCHAISSO ss3065693848 Nov 08, 2017 (151)
14 URBANLAB ss3650841598 Oct 12, 2018 (152)
15 EVA_DECODE ss3702095932 Jul 13, 2019 (153)
16 EVA_DECODE ss3702095933 Jul 13, 2019 (153)
17 EVA_DECODE ss3702095934 Jul 13, 2019 (153)
18 EVA_DECODE ss3702095935 Jul 13, 2019 (153)
19 EVA_DECODE ss3702095936 Jul 13, 2019 (153)
20 EVA_DECODE ss3702095937 Jul 13, 2019 (153)
21 ACPOP ss3742746275 Jul 13, 2019 (153)
22 ACPOP ss3742746276 Jul 13, 2019 (153)
23 ACPOP ss3742746277 Jul 13, 2019 (153)
24 ACPOP ss3742746278 Jul 13, 2019 (153)
25 ACPOP ss3742746279 Jul 13, 2019 (153)
26 PACBIO ss3793358944 Jul 13, 2019 (153)
27 PACBIO ss3793358945 Jul 13, 2019 (153)
28 PACBIO ss3798245429 Jul 13, 2019 (153)
29 EVA ss3835287250 Apr 27, 2020 (154)
30 GNOMAD ss4325715118 Apr 26, 2021 (155)
31 GNOMAD ss4325715119 Apr 26, 2021 (155)
32 GNOMAD ss4325715120 Apr 26, 2021 (155)
33 GNOMAD ss4325715121 Apr 26, 2021 (155)
34 GNOMAD ss4325715122 Apr 26, 2021 (155)
35 GNOMAD ss4325715123 Apr 26, 2021 (155)
36 GNOMAD ss4325715124 Apr 26, 2021 (155)
37 GNOMAD ss4325715125 Apr 26, 2021 (155)
38 GNOMAD ss4325715126 Apr 26, 2021 (155)
39 GNOMAD ss4325715127 Apr 26, 2021 (155)
40 GNOMAD ss4325715128 Apr 26, 2021 (155)
41 GNOMAD ss4325715129 Apr 26, 2021 (155)
42 GNOMAD ss4325715130 Apr 26, 2021 (155)
43 GNOMAD ss4325715131 Apr 26, 2021 (155)
44 GNOMAD ss4325715132 Apr 26, 2021 (155)
45 GNOMAD ss4325715133 Apr 26, 2021 (155)
46 GNOMAD ss4325715134 Apr 26, 2021 (155)
47 GNOMAD ss4325715135 Apr 26, 2021 (155)
48 GNOMAD ss4325715136 Apr 26, 2021 (155)
49 GNOMAD ss4325715137 Apr 26, 2021 (155)
50 GNOMAD ss4325715138 Apr 26, 2021 (155)
51 GNOMAD ss4325715139 Apr 26, 2021 (155)
52 GNOMAD ss4325715140 Apr 26, 2021 (155)
53 GNOMAD ss4325715141 Apr 26, 2021 (155)
54 GNOMAD ss4325715142 Apr 26, 2021 (155)
55 GNOMAD ss4325715143 Apr 26, 2021 (155)
56 GNOMAD ss4325715144 Apr 26, 2021 (155)
57 GNOMAD ss4325715145 Apr 26, 2021 (155)
58 GNOMAD ss4325715146 Apr 26, 2021 (155)
59 GNOMAD ss4325715147 Apr 26, 2021 (155)
60 GNOMAD ss4325715148 Apr 26, 2021 (155)
61 TOMMO_GENOMICS ss5226141716 Apr 26, 2021 (155)
62 TOMMO_GENOMICS ss5226141717 Apr 26, 2021 (155)
63 TOMMO_GENOMICS ss5226141718 Apr 26, 2021 (155)
64 TOMMO_GENOMICS ss5226141719 Apr 26, 2021 (155)
65 TOMMO_GENOMICS ss5226141720 Apr 26, 2021 (155)
66 TOMMO_GENOMICS ss5226141721 Apr 26, 2021 (155)
67 1000G_HIGH_COVERAGE ss5306055391 Oct 16, 2022 (156)
68 1000G_HIGH_COVERAGE ss5306055392 Oct 16, 2022 (156)
69 1000G_HIGH_COVERAGE ss5306055393 Oct 16, 2022 (156)
70 1000G_HIGH_COVERAGE ss5306055394 Oct 16, 2022 (156)
71 1000G_HIGH_COVERAGE ss5306055395 Oct 16, 2022 (156)
72 HUGCELL_USP ss5498755488 Oct 16, 2022 (156)
73 HUGCELL_USP ss5498755489 Oct 16, 2022 (156)
74 HUGCELL_USP ss5498755490 Oct 16, 2022 (156)
75 HUGCELL_USP ss5498755491 Oct 16, 2022 (156)
76 HUGCELL_USP ss5498755492 Oct 16, 2022 (156)
77 HUGCELL_USP ss5498755493 Oct 16, 2022 (156)
78 TOMMO_GENOMICS ss5784206600 Oct 16, 2022 (156)
79 TOMMO_GENOMICS ss5784206601 Oct 16, 2022 (156)
80 TOMMO_GENOMICS ss5784206602 Oct 16, 2022 (156)
81 TOMMO_GENOMICS ss5784206603 Oct 16, 2022 (156)
82 TOMMO_GENOMICS ss5784206604 Oct 16, 2022 (156)
83 TOMMO_GENOMICS ss5784206605 Oct 16, 2022 (156)
84 EVA ss5827853302 Oct 16, 2022 (156)
85 EVA ss5827853303 Oct 16, 2022 (156)
86 EVA ss5827853304 Oct 16, 2022 (156)
87 EVA ss5827853305 Oct 16, 2022 (156)
88 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 41720946 (NC_000018.9:74960273:AAA: 2219/3854)
Row 41720947 (NC_000018.9:74960272:AAAAA: 647/3854)
Row 41720948 (NC_000018.9:74960271:AAAAAAA: 362/3854)

- Oct 12, 2018 (152)
89 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 41720946 (NC_000018.9:74960273:AAA: 2219/3854)
Row 41720947 (NC_000018.9:74960272:AAAAA: 647/3854)
Row 41720948 (NC_000018.9:74960271:AAAAAAA: 362/3854)

- Oct 12, 2018 (152)
90 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 41720946 (NC_000018.9:74960273:AAA: 2219/3854)
Row 41720947 (NC_000018.9:74960272:AAAAA: 647/3854)
Row 41720948 (NC_000018.9:74960271:AAAAAAA: 362/3854)

- Oct 12, 2018 (152)
91 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
92 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
93 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
94 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
95 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
96 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
97 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
98 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
99 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
100 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
101 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
102 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
103 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
104 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
105 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
106 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
107 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
108 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
109 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
110 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
111 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
112 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
113 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
114 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
115 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
116 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
117 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
118 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
119 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
120 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
121 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
122 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
123 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
124 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
125 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
126 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 530739391 (NC_000018.10:77248315::A 247/69790)
Row 530739392 (NC_000018.10:77248315::AA 72/69784)
Row 530739393 (NC_000018.10:77248315::AAA 210/69780)...

- Apr 26, 2021 (155)
127 Northern Sweden

Submission ignored due to conflicting rows:
Row 16031140 (NC_000018.9:74960271:AAA: 24/520)
Row 16031141 (NC_000018.9:74960271::AAAAAAAAAAA 5/520)
Row 16031142 (NC_000018.9:74960271:AAAAA: 16/520)...

- Jul 13, 2019 (153)
128 Northern Sweden

Submission ignored due to conflicting rows:
Row 16031140 (NC_000018.9:74960271:AAA: 24/520)
Row 16031141 (NC_000018.9:74960271::AAAAAAAAAAA 5/520)
Row 16031142 (NC_000018.9:74960271:AAAAA: 16/520)...

- Jul 13, 2019 (153)
129 Northern Sweden

Submission ignored due to conflicting rows:
Row 16031140 (NC_000018.9:74960271:AAA: 24/520)
Row 16031141 (NC_000018.9:74960271::AAAAAAAAAAA 5/520)
Row 16031142 (NC_000018.9:74960271:AAAAA: 16/520)...

- Jul 13, 2019 (153)
130 Northern Sweden

Submission ignored due to conflicting rows:
Row 16031140 (NC_000018.9:74960271:AAA: 24/520)
Row 16031141 (NC_000018.9:74960271::AAAAAAAAAAA 5/520)
Row 16031142 (NC_000018.9:74960271:AAAAA: 16/520)...

- Jul 13, 2019 (153)
131 Northern Sweden

Submission ignored due to conflicting rows:
Row 16031140 (NC_000018.9:74960271:AAA: 24/520)
Row 16031141 (NC_000018.9:74960271::AAAAAAAAAAA 5/520)
Row 16031142 (NC_000018.9:74960271:AAAAA: 16/520)...

- Jul 13, 2019 (153)
132 8.3KJPN

Submission ignored due to conflicting rows:
Row 84111023 (NC_000018.9:74960271:AAAAAA: 1860/15848)
Row 84111024 (NC_000018.9:74960271:AAAA: 686/15848)
Row 84111025 (NC_000018.9:74960271:AAAAA: 1330/15848)...

- Apr 26, 2021 (155)
133 8.3KJPN

Submission ignored due to conflicting rows:
Row 84111023 (NC_000018.9:74960271:AAAAAA: 1860/15848)
Row 84111024 (NC_000018.9:74960271:AAAA: 686/15848)
Row 84111025 (NC_000018.9:74960271:AAAAA: 1330/15848)...

- Apr 26, 2021 (155)
134 8.3KJPN

Submission ignored due to conflicting rows:
Row 84111023 (NC_000018.9:74960271:AAAAAA: 1860/15848)
Row 84111024 (NC_000018.9:74960271:AAAA: 686/15848)
Row 84111025 (NC_000018.9:74960271:AAAAA: 1330/15848)...

- Apr 26, 2021 (155)
135 8.3KJPN

Submission ignored due to conflicting rows:
Row 84111023 (NC_000018.9:74960271:AAAAAA: 1860/15848)
Row 84111024 (NC_000018.9:74960271:AAAA: 686/15848)
Row 84111025 (NC_000018.9:74960271:AAAAA: 1330/15848)...

- Apr 26, 2021 (155)
136 8.3KJPN

Submission ignored due to conflicting rows:
Row 84111023 (NC_000018.9:74960271:AAAAAA: 1860/15848)
Row 84111024 (NC_000018.9:74960271:AAAA: 686/15848)
Row 84111025 (NC_000018.9:74960271:AAAAA: 1330/15848)...

- Apr 26, 2021 (155)
137 8.3KJPN

Submission ignored due to conflicting rows:
Row 84111023 (NC_000018.9:74960271:AAAAAA: 1860/15848)
Row 84111024 (NC_000018.9:74960271:AAAA: 686/15848)
Row 84111025 (NC_000018.9:74960271:AAAAA: 1330/15848)...

- Apr 26, 2021 (155)
138 14KJPN

Submission ignored due to conflicting rows:
Row 118043704 (NC_000018.10:77248315:AAAAA: 2276/24822)
Row 118043705 (NC_000018.10:77248315:AAAAAA: 3026/24822)
Row 118043706 (NC_000018.10:77248315:AAA: 5101/24822)...

- Oct 16, 2022 (156)
139 14KJPN

Submission ignored due to conflicting rows:
Row 118043704 (NC_000018.10:77248315:AAAAA: 2276/24822)
Row 118043705 (NC_000018.10:77248315:AAAAAA: 3026/24822)
Row 118043706 (NC_000018.10:77248315:AAA: 5101/24822)...

- Oct 16, 2022 (156)
140 14KJPN

Submission ignored due to conflicting rows:
Row 118043704 (NC_000018.10:77248315:AAAAA: 2276/24822)
Row 118043705 (NC_000018.10:77248315:AAAAAA: 3026/24822)
Row 118043706 (NC_000018.10:77248315:AAA: 5101/24822)...

- Oct 16, 2022 (156)
141 14KJPN

Submission ignored due to conflicting rows:
Row 118043704 (NC_000018.10:77248315:AAAAA: 2276/24822)
Row 118043705 (NC_000018.10:77248315:AAAAAA: 3026/24822)
Row 118043706 (NC_000018.10:77248315:AAA: 5101/24822)...

- Oct 16, 2022 (156)
142 14KJPN

Submission ignored due to conflicting rows:
Row 118043704 (NC_000018.10:77248315:AAAAA: 2276/24822)
Row 118043705 (NC_000018.10:77248315:AAAAAA: 3026/24822)
Row 118043706 (NC_000018.10:77248315:AAA: 5101/24822)...

- Oct 16, 2022 (156)
143 14KJPN

Submission ignored due to conflicting rows:
Row 118043704 (NC_000018.10:77248315:AAAAA: 2276/24822)
Row 118043705 (NC_000018.10:77248315:AAAAAA: 3026/24822)
Row 118043706 (NC_000018.10:77248315:AAA: 5101/24822)...

- Oct 16, 2022 (156)
144 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 41720946 (NC_000018.9:74960273:AAA: 2080/3708)
Row 41720947 (NC_000018.9:74960272:AAAAA: 653/3708)
Row 41720948 (NC_000018.9:74960271:AAAAAAA: 315/3708)

- Oct 12, 2018 (152)
145 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 41720946 (NC_000018.9:74960273:AAA: 2080/3708)
Row 41720947 (NC_000018.9:74960272:AAAAA: 653/3708)
Row 41720948 (NC_000018.9:74960271:AAAAAAA: 315/3708)

- Oct 12, 2018 (152)
146 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 41720946 (NC_000018.9:74960273:AAA: 2080/3708)
Row 41720947 (NC_000018.9:74960272:AAAAA: 653/3708)
Row 41720948 (NC_000018.9:74960271:AAAAAAA: 315/3708)

- Oct 12, 2018 (152)
147 ALFA NC_000018.10 - 77248316 Apr 26, 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).

Associated ID History Updated (Build)
rs71174624 Apr 25, 2013 (138)
rs72100670 Oct 26, 2010 (133)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4325715148 NC_000018.10:77248315:AAAAAAAAAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4325715147 NC_000018.10:77248315:AAAAAAAAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4325715146 NC_000018.10:77248315:AAAAAAAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4325715145 NC_000018.10:77248315:AAAAAAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss1709076504, ss1709076594, ss5226141721, ss5827853305 NC_000018.9:74960271:AAAAAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4325715144, ss5498755490 NC_000018.10:77248315:AAAAAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss80430138 NC_000018.8:73089279:AAAAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3016884957, ss5226141716, ss5827853303 NC_000018.9:74960271:AAAAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss1710773031, ss1710773036 NC_000018.9:74960272:AAAAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3065693848, ss3702095937, ss4325715143, ss5306055391, ss5498755488, ss5784206601 NC_000018.10:77248315:AAAAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3742746277, ss5226141718, ss5827853302 NC_000018.9:74960271:AAAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
NC_000018.9:74960272:AAAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss1710773029, ss1710773034 NC_000018.9:74960273:AAAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3650841598, ss4325715142, ss5306055394, ss5498755489, ss5784206600 NC_000018.10:77248315:AAAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3702095936 NC_000018.10:77248316:AAAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss95717985 NT_025028.14:22751156:AAAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3793358944, ss5226141717, ss5827853304 NC_000018.9:74960271:AAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715141, ss5306055393, ss5498755491, ss5784206603 NC_000018.10:77248315:AAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3702095935 NC_000018.10:77248317:AAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss79791125 NC_000018.8:73089282:AAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3742746275, ss3793358945, ss3798245429, ss3835287250, ss5226141719 NC_000018.9:74960271:AAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
NC_000018.9:74960273:AAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715140, ss5498755492, ss5784206602 NC_000018.10:77248315:AAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3702095934 NC_000018.10:77248318:AAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5226141720 NC_000018.9:74960271:AA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715139, ss5306055392, ss5498755493, ss5784206604 NC_000018.10:77248315:AA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3702095933 NC_000018.10:77248319:AA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715138, ss5306055395 NC_000018.10:77248315:A: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715118 NC_000018.10:77248315::A NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715119, ss5784206605 NC_000018.10:77248315::AA NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715120 NC_000018.10:77248315::AAA NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715121 NC_000018.10:77248315::AAAA NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3702095932 NC_000018.10:77248321::AAAA NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss77896716, ss77919923 NT_025028.14:22751161::AAAA NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715122 NC_000018.10:77248315::AAAAA NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715123 NC_000018.10:77248315::AAAAAA NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715124 NC_000018.10:77248315::AAAAAAA NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715125 NC_000018.10:77248315::AAAAAAAA NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
6797220505 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3742746278 NC_000018.9:74960271::AAAAAAAAA NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715126 NC_000018.10:77248315::AAAAAAAAA NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3742746279 NC_000018.9:74960271::AAAAAAAAAA NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3742746276 NC_000018.9:74960271::AAAAAAAAAAA NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715127 NC_000018.10:77248315::AAAAAAAAAAA NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715128 NC_000018.10:77248315::AAAAAAAAAAA…

NC_000018.10:77248315::AAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715129 NC_000018.10:77248315::AAAAAAAAAAA…

NC_000018.10:77248315::AAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715130 NC_000018.10:77248315::AAAAAAAAAAA…

NC_000018.10:77248315::AAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715131 NC_000018.10:77248315::AAAAAAAAAAA…

NC_000018.10:77248315::AAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715132 NC_000018.10:77248315::AAAAAAAAAAA…

NC_000018.10:77248315::AAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715133 NC_000018.10:77248315::AAAAAAAAAAA…

NC_000018.10:77248315::AAAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715134 NC_000018.10:77248315::AAAAAAAAAAA…

NC_000018.10:77248315::AAAAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715135 NC_000018.10:77248315::AAAAAAAAAAA…

NC_000018.10:77248315::AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715136 NC_000018.10:77248315::AAAAAAAAAAA…

NC_000018.10:77248315::AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4325715137 NC_000018.10:77248315::AAAAAAAAAAA…

NC_000018.10:77248315::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
NC_000018.10:77248315::AAAAAAAAAAA…

NC_000018.10:77248315::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAATAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
NC_000018.10:77248315::AAAAAAAAAAA…

NC_000018.10:77248315::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAATAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
NC_000018.10:77248315::AAAAAAAAAAA…

NC_000018.10:77248315::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
NC_000018.10:77248315::AAAAAAAAAAA…

NC_000018.10:77248315::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAATAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
NC_000018.10:77248315::AAAAAAAAAAA…

NC_000018.10:77248315::AAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3284856745 NC_000018.10:77248315:AAAAAAAAAAAA: NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

ss3284856746 NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAA:

NC_000018.10:77248315:AAAAAAAAAAAA…

NC_000018.10:77248315:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

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 rs55974947

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