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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.

rs58992023

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:59211665-59211690 (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)15 / del(A)14 / del(A)13 / d…

del(A)15 / del(A)14 / del(A)13 / del(A)12 / 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

Variation Type
Indel Insertion and Deletion
Frequency
del(A)15=0.00 (0/94, ALFA)
del(A)14=0.00 (0/94, ALFA)
del(A)13=0.00 (0/94, ALFA) (+ 20 more)
del(A)12=0.00 (0/94, ALFA)
del(A)10=0.00 (0/94, ALFA)
del(A)9=0.00 (0/94, ALFA)
del(A)8=0.00 (0/94, ALFA)
del(A)7=0.00 (0/94, ALFA)
del(A)6=0.00 (0/94, ALFA)
del(A)5=0.00 (0/94, ALFA)
del(A)4=0.00 (0/94, ALFA)
delAAA=0.00 (0/94, ALFA)
delAA=0.00 (0/94, ALFA)
delA=0.00 (0/94, ALFA)
dupA=0.00 (0/94, ALFA)
dupAA=0.00 (0/94, ALFA)
dupAAA=0.00 (0/94, ALFA)
dup(A)4=0.00 (0/94, ALFA)
dup(A)5=0.00 (0/94, ALFA)
dup(A)6=0.00 (0/94, ALFA)
dup(A)7=0.00 (0/94, ALFA)
dup(A)8=0.00 (0/94, ALFA)
dup(A)9=0.00 (0/94, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
PHYHIPL : 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 94 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
European Sub 34 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African Sub 48 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African Others Sub 4 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 44 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
East Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 1 Sub 0 AAAAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 2 Sub 6 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
South Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Sub 6 AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 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 94 (A)26=1.00 del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=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)7=0.00, dup(A)8=0.00, dup(A)9=0.00
Allele Frequency Aggregator African Sub 48 (A)26=1.00 del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=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)7=0.00, dup(A)8=0.00, dup(A)9=0.00
Allele Frequency Aggregator European Sub 34 (A)26=1.00 del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=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)7=0.00, dup(A)8=0.00, dup(A)9=0.00
Allele Frequency Aggregator Latin American 2 Sub 6 (A)26=1.0 del(A)15=0.0, del(A)14=0.0, del(A)13=0.0, del(A)12=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)7=0.0, dup(A)8=0.0, dup(A)9=0.0
Allele Frequency Aggregator Other Sub 6 (A)26=1.0 del(A)15=0.0, del(A)14=0.0, del(A)13=0.0, del(A)12=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)7=0.0, dup(A)8=0.0, dup(A)9=0.0
Allele Frequency Aggregator Latin American 1 Sub 0 (A)26=0 del(A)15=0, del(A)14=0, del(A)13=0, del(A)12=0, del(A)10=0, del(A)9=0, del(A)8=0, del(A)7=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)4=0, dup(A)5=0, dup(A)6=0, dup(A)7=0, dup(A)8=0, dup(A)9=0
Allele Frequency Aggregator South Asian Sub 0 (A)26=0 del(A)15=0, del(A)14=0, del(A)13=0, del(A)12=0, del(A)10=0, del(A)9=0, del(A)8=0, del(A)7=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)4=0, dup(A)5=0, dup(A)6=0, dup(A)7=0, dup(A)8=0, dup(A)9=0
Allele Frequency Aggregator Asian Sub 0 (A)26=0 del(A)15=0, del(A)14=0, del(A)13=0, del(A)12=0, del(A)10=0, del(A)9=0, del(A)8=0, del(A)7=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)4=0, dup(A)5=0, dup(A)6=0, dup(A)7=0, dup(A)8=0, dup(A)9=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 10 NC_000010.11:g.59211676_59211690del
GRCh38.p14 chr 10 NC_000010.11:g.59211677_59211690del
GRCh38.p14 chr 10 NC_000010.11:g.59211678_59211690del
GRCh38.p14 chr 10 NC_000010.11:g.59211679_59211690del
GRCh38.p14 chr 10 NC_000010.11:g.59211681_59211690del
GRCh38.p14 chr 10 NC_000010.11:g.59211682_59211690del
GRCh38.p14 chr 10 NC_000010.11:g.59211683_59211690del
GRCh38.p14 chr 10 NC_000010.11:g.59211684_59211690del
GRCh38.p14 chr 10 NC_000010.11:g.59211685_59211690del
GRCh38.p14 chr 10 NC_000010.11:g.59211686_59211690del
GRCh38.p14 chr 10 NC_000010.11:g.59211687_59211690del
GRCh38.p14 chr 10 NC_000010.11:g.59211688_59211690del
GRCh38.p14 chr 10 NC_000010.11:g.59211689_59211690del
GRCh38.p14 chr 10 NC_000010.11:g.59211690del
GRCh38.p14 chr 10 NC_000010.11:g.59211690dup
GRCh38.p14 chr 10 NC_000010.11:g.59211689_59211690dup
GRCh38.p14 chr 10 NC_000010.11:g.59211688_59211690dup
GRCh38.p14 chr 10 NC_000010.11:g.59211687_59211690dup
GRCh38.p14 chr 10 NC_000010.11:g.59211686_59211690dup
GRCh38.p14 chr 10 NC_000010.11:g.59211685_59211690dup
GRCh38.p14 chr 10 NC_000010.11:g.59211684_59211690dup
GRCh38.p14 chr 10 NC_000010.11:g.59211683_59211690dup
GRCh38.p14 chr 10 NC_000010.11:g.59211682_59211690dup
GRCh37.p13 chr 10 NC_000010.10:g.60971436_60971450del
GRCh37.p13 chr 10 NC_000010.10:g.60971437_60971450del
GRCh37.p13 chr 10 NC_000010.10:g.60971438_60971450del
GRCh37.p13 chr 10 NC_000010.10:g.60971439_60971450del
GRCh37.p13 chr 10 NC_000010.10:g.60971441_60971450del
GRCh37.p13 chr 10 NC_000010.10:g.60971442_60971450del
GRCh37.p13 chr 10 NC_000010.10:g.60971443_60971450del
GRCh37.p13 chr 10 NC_000010.10:g.60971444_60971450del
GRCh37.p13 chr 10 NC_000010.10:g.60971445_60971450del
GRCh37.p13 chr 10 NC_000010.10:g.60971446_60971450del
GRCh37.p13 chr 10 NC_000010.10:g.60971447_60971450del
GRCh37.p13 chr 10 NC_000010.10:g.60971448_60971450del
GRCh37.p13 chr 10 NC_000010.10:g.60971449_60971450del
GRCh37.p13 chr 10 NC_000010.10:g.60971450del
GRCh37.p13 chr 10 NC_000010.10:g.60971450dup
GRCh37.p13 chr 10 NC_000010.10:g.60971449_60971450dup
GRCh37.p13 chr 10 NC_000010.10:g.60971448_60971450dup
GRCh37.p13 chr 10 NC_000010.10:g.60971447_60971450dup
GRCh37.p13 chr 10 NC_000010.10:g.60971446_60971450dup
GRCh37.p13 chr 10 NC_000010.10:g.60971445_60971450dup
GRCh37.p13 chr 10 NC_000010.10:g.60971444_60971450dup
GRCh37.p13 chr 10 NC_000010.10:g.60971443_60971450dup
GRCh37.p13 chr 10 NC_000010.10:g.60971442_60971450dup
Gene: PHYHIPL, phytanoyl-CoA 2-hydroxylase interacting protein like (plus strand)
Molecule type Change Amino acid[Codon] SO Term
PHYHIPL transcript variant 2 NM_001143774.2:c.29-22628…

NM_001143774.2:c.29-22628_29-22614del

N/A Intron Variant
PHYHIPL transcript variant 1 NM_032439.4:c.107-22628_1…

NM_032439.4:c.107-22628_107-22614del

N/A Intron Variant
PHYHIPL transcript variant X2 XM_011540275.4:c.-33+4832…

XM_011540275.4:c.-33+4832_-33+4846del

N/A Intron Variant
PHYHIPL transcript variant X1 XM_011540276.4:c.-32-2262…

XM_011540276.4:c.-32-22628_-32-22614del

N/A Intron Variant
PHYHIPL transcript variant X4 XM_017016782.2:c.-33+4832…

XM_017016782.2:c.-33+4832_-33+4846del

N/A Intron Variant
PHYHIPL transcript variant X3 XM_017016783.3:c.-33+4832…

XM_017016783.3:c.-33+4832_-33+4846del

N/A Intron 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)15 del(A)14 del(A)13 del(A)12 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
GRCh38.p14 chr 10 NC_000010.11:g.59211665_59211690= NC_000010.11:g.59211676_59211690del NC_000010.11:g.59211677_59211690del NC_000010.11:g.59211678_59211690del NC_000010.11:g.59211679_59211690del NC_000010.11:g.59211681_59211690del NC_000010.11:g.59211682_59211690del NC_000010.11:g.59211683_59211690del NC_000010.11:g.59211684_59211690del NC_000010.11:g.59211685_59211690del NC_000010.11:g.59211686_59211690del NC_000010.11:g.59211687_59211690del NC_000010.11:g.59211688_59211690del NC_000010.11:g.59211689_59211690del NC_000010.11:g.59211690del NC_000010.11:g.59211690dup NC_000010.11:g.59211689_59211690dup NC_000010.11:g.59211688_59211690dup NC_000010.11:g.59211687_59211690dup NC_000010.11:g.59211686_59211690dup NC_000010.11:g.59211685_59211690dup NC_000010.11:g.59211684_59211690dup NC_000010.11:g.59211683_59211690dup NC_000010.11:g.59211682_59211690dup
GRCh37.p13 chr 10 NC_000010.10:g.60971425_60971450= NC_000010.10:g.60971436_60971450del NC_000010.10:g.60971437_60971450del NC_000010.10:g.60971438_60971450del NC_000010.10:g.60971439_60971450del NC_000010.10:g.60971441_60971450del NC_000010.10:g.60971442_60971450del NC_000010.10:g.60971443_60971450del NC_000010.10:g.60971444_60971450del NC_000010.10:g.60971445_60971450del NC_000010.10:g.60971446_60971450del NC_000010.10:g.60971447_60971450del NC_000010.10:g.60971448_60971450del NC_000010.10:g.60971449_60971450del NC_000010.10:g.60971450del NC_000010.10:g.60971450dup NC_000010.10:g.60971449_60971450dup NC_000010.10:g.60971448_60971450dup NC_000010.10:g.60971447_60971450dup NC_000010.10:g.60971446_60971450dup NC_000010.10:g.60971445_60971450dup NC_000010.10:g.60971444_60971450dup NC_000010.10:g.60971443_60971450dup NC_000010.10:g.60971442_60971450dup
PHYHIPL transcript variant 2 NM_001143774.1:c.29-22639= NM_001143774.1:c.29-22628_29-22614del NM_001143774.1:c.29-22627_29-22614del NM_001143774.1:c.29-22626_29-22614del NM_001143774.1:c.29-22625_29-22614del NM_001143774.1:c.29-22623_29-22614del NM_001143774.1:c.29-22622_29-22614del NM_001143774.1:c.29-22621_29-22614del NM_001143774.1:c.29-22620_29-22614del NM_001143774.1:c.29-22619_29-22614del NM_001143774.1:c.29-22618_29-22614del NM_001143774.1:c.29-22617_29-22614del NM_001143774.1:c.29-22616_29-22614del NM_001143774.1:c.29-22615_29-22614del NM_001143774.1:c.29-22614del NM_001143774.1:c.29-22614dup NM_001143774.1:c.29-22615_29-22614dup NM_001143774.1:c.29-22616_29-22614dup NM_001143774.1:c.29-22617_29-22614dup NM_001143774.1:c.29-22618_29-22614dup NM_001143774.1:c.29-22619_29-22614dup NM_001143774.1:c.29-22620_29-22614dup NM_001143774.1:c.29-22621_29-22614dup NM_001143774.1:c.29-22622_29-22614dup
PHYHIPL transcript variant 2 NM_001143774.2:c.29-22639= NM_001143774.2:c.29-22628_29-22614del NM_001143774.2:c.29-22627_29-22614del NM_001143774.2:c.29-22626_29-22614del NM_001143774.2:c.29-22625_29-22614del NM_001143774.2:c.29-22623_29-22614del NM_001143774.2:c.29-22622_29-22614del NM_001143774.2:c.29-22621_29-22614del NM_001143774.2:c.29-22620_29-22614del NM_001143774.2:c.29-22619_29-22614del NM_001143774.2:c.29-22618_29-22614del NM_001143774.2:c.29-22617_29-22614del NM_001143774.2:c.29-22616_29-22614del NM_001143774.2:c.29-22615_29-22614del NM_001143774.2:c.29-22614del NM_001143774.2:c.29-22614dup NM_001143774.2:c.29-22615_29-22614dup NM_001143774.2:c.29-22616_29-22614dup NM_001143774.2:c.29-22617_29-22614dup NM_001143774.2:c.29-22618_29-22614dup NM_001143774.2:c.29-22619_29-22614dup NM_001143774.2:c.29-22620_29-22614dup NM_001143774.2:c.29-22621_29-22614dup NM_001143774.2:c.29-22622_29-22614dup
PHYHIPL transcript variant 1 NM_032439.3:c.107-22639= NM_032439.3:c.107-22628_107-22614del NM_032439.3:c.107-22627_107-22614del NM_032439.3:c.107-22626_107-22614del NM_032439.3:c.107-22625_107-22614del NM_032439.3:c.107-22623_107-22614del NM_032439.3:c.107-22622_107-22614del NM_032439.3:c.107-22621_107-22614del NM_032439.3:c.107-22620_107-22614del NM_032439.3:c.107-22619_107-22614del NM_032439.3:c.107-22618_107-22614del NM_032439.3:c.107-22617_107-22614del NM_032439.3:c.107-22616_107-22614del NM_032439.3:c.107-22615_107-22614del NM_032439.3:c.107-22614del NM_032439.3:c.107-22614dup NM_032439.3:c.107-22615_107-22614dup NM_032439.3:c.107-22616_107-22614dup NM_032439.3:c.107-22617_107-22614dup NM_032439.3:c.107-22618_107-22614dup NM_032439.3:c.107-22619_107-22614dup NM_032439.3:c.107-22620_107-22614dup NM_032439.3:c.107-22621_107-22614dup NM_032439.3:c.107-22622_107-22614dup
PHYHIPL transcript variant 1 NM_032439.4:c.107-22639= NM_032439.4:c.107-22628_107-22614del NM_032439.4:c.107-22627_107-22614del NM_032439.4:c.107-22626_107-22614del NM_032439.4:c.107-22625_107-22614del NM_032439.4:c.107-22623_107-22614del NM_032439.4:c.107-22622_107-22614del NM_032439.4:c.107-22621_107-22614del NM_032439.4:c.107-22620_107-22614del NM_032439.4:c.107-22619_107-22614del NM_032439.4:c.107-22618_107-22614del NM_032439.4:c.107-22617_107-22614del NM_032439.4:c.107-22616_107-22614del NM_032439.4:c.107-22615_107-22614del NM_032439.4:c.107-22614del NM_032439.4:c.107-22614dup NM_032439.4:c.107-22615_107-22614dup NM_032439.4:c.107-22616_107-22614dup NM_032439.4:c.107-22617_107-22614dup NM_032439.4:c.107-22618_107-22614dup NM_032439.4:c.107-22619_107-22614dup NM_032439.4:c.107-22620_107-22614dup NM_032439.4:c.107-22621_107-22614dup NM_032439.4:c.107-22622_107-22614dup
PHYHIPL transcript variant X1 XM_005270226.1:c.14-22639= XM_005270226.1:c.14-22628_14-22614del XM_005270226.1:c.14-22627_14-22614del XM_005270226.1:c.14-22626_14-22614del XM_005270226.1:c.14-22625_14-22614del XM_005270226.1:c.14-22623_14-22614del XM_005270226.1:c.14-22622_14-22614del XM_005270226.1:c.14-22621_14-22614del XM_005270226.1:c.14-22620_14-22614del XM_005270226.1:c.14-22619_14-22614del XM_005270226.1:c.14-22618_14-22614del XM_005270226.1:c.14-22617_14-22614del XM_005270226.1:c.14-22616_14-22614del XM_005270226.1:c.14-22615_14-22614del XM_005270226.1:c.14-22614del XM_005270226.1:c.14-22614dup XM_005270226.1:c.14-22615_14-22614dup XM_005270226.1:c.14-22616_14-22614dup XM_005270226.1:c.14-22617_14-22614dup XM_005270226.1:c.14-22618_14-22614dup XM_005270226.1:c.14-22619_14-22614dup XM_005270226.1:c.14-22620_14-22614dup XM_005270226.1:c.14-22621_14-22614dup XM_005270226.1:c.14-22622_14-22614dup
PHYHIPL transcript variant X3 XM_005270228.1:c.-33+4821= XM_005270228.1:c.-33+4832_-33+4846del XM_005270228.1:c.-33+4833_-33+4846del XM_005270228.1:c.-33+4834_-33+4846del XM_005270228.1:c.-33+4835_-33+4846del XM_005270228.1:c.-33+4837_-33+4846del XM_005270228.1:c.-33+4838_-33+4846del XM_005270228.1:c.-33+4839_-33+4846del XM_005270228.1:c.-33+4840_-33+4846del XM_005270228.1:c.-33+4841_-33+4846del XM_005270228.1:c.-33+4842_-33+4846del XM_005270228.1:c.-33+4843_-33+4846del XM_005270228.1:c.-33+4844_-33+4846del XM_005270228.1:c.-33+4845_-33+4846del XM_005270228.1:c.-33+4846del XM_005270228.1:c.-33+4846dup XM_005270228.1:c.-33+4845_-33+4846dup XM_005270228.1:c.-33+4844_-33+4846dup XM_005270228.1:c.-33+4843_-33+4846dup XM_005270228.1:c.-33+4842_-33+4846dup XM_005270228.1:c.-33+4841_-33+4846dup XM_005270228.1:c.-33+4840_-33+4846dup XM_005270228.1:c.-33+4839_-33+4846dup XM_005270228.1:c.-33+4838_-33+4846dup
PHYHIPL transcript variant X2 XM_011540275.4:c.-33+4821= XM_011540275.4:c.-33+4832_-33+4846del XM_011540275.4:c.-33+4833_-33+4846del XM_011540275.4:c.-33+4834_-33+4846del XM_011540275.4:c.-33+4835_-33+4846del XM_011540275.4:c.-33+4837_-33+4846del XM_011540275.4:c.-33+4838_-33+4846del XM_011540275.4:c.-33+4839_-33+4846del XM_011540275.4:c.-33+4840_-33+4846del XM_011540275.4:c.-33+4841_-33+4846del XM_011540275.4:c.-33+4842_-33+4846del XM_011540275.4:c.-33+4843_-33+4846del XM_011540275.4:c.-33+4844_-33+4846del XM_011540275.4:c.-33+4845_-33+4846del XM_011540275.4:c.-33+4846del XM_011540275.4:c.-33+4846dup XM_011540275.4:c.-33+4845_-33+4846dup XM_011540275.4:c.-33+4844_-33+4846dup XM_011540275.4:c.-33+4843_-33+4846dup XM_011540275.4:c.-33+4842_-33+4846dup XM_011540275.4:c.-33+4841_-33+4846dup XM_011540275.4:c.-33+4840_-33+4846dup XM_011540275.4:c.-33+4839_-33+4846dup XM_011540275.4:c.-33+4838_-33+4846dup
PHYHIPL transcript variant X1 XM_011540276.4:c.-32-22639= XM_011540276.4:c.-32-22628_-32-22614del XM_011540276.4:c.-32-22627_-32-22614del XM_011540276.4:c.-32-22626_-32-22614del XM_011540276.4:c.-32-22625_-32-22614del XM_011540276.4:c.-32-22623_-32-22614del XM_011540276.4:c.-32-22622_-32-22614del XM_011540276.4:c.-32-22621_-32-22614del XM_011540276.4:c.-32-22620_-32-22614del XM_011540276.4:c.-32-22619_-32-22614del XM_011540276.4:c.-32-22618_-32-22614del XM_011540276.4:c.-32-22617_-32-22614del XM_011540276.4:c.-32-22616_-32-22614del XM_011540276.4:c.-32-22615_-32-22614del XM_011540276.4:c.-32-22614del XM_011540276.4:c.-32-22614dup XM_011540276.4:c.-32-22615_-32-22614dup XM_011540276.4:c.-32-22616_-32-22614dup XM_011540276.4:c.-32-22617_-32-22614dup XM_011540276.4:c.-32-22618_-32-22614dup XM_011540276.4:c.-32-22619_-32-22614dup XM_011540276.4:c.-32-22620_-32-22614dup XM_011540276.4:c.-32-22621_-32-22614dup XM_011540276.4:c.-32-22622_-32-22614dup
PHYHIPL transcript variant X4 XM_017016782.2:c.-33+4821= XM_017016782.2:c.-33+4832_-33+4846del XM_017016782.2:c.-33+4833_-33+4846del XM_017016782.2:c.-33+4834_-33+4846del XM_017016782.2:c.-33+4835_-33+4846del XM_017016782.2:c.-33+4837_-33+4846del XM_017016782.2:c.-33+4838_-33+4846del XM_017016782.2:c.-33+4839_-33+4846del XM_017016782.2:c.-33+4840_-33+4846del XM_017016782.2:c.-33+4841_-33+4846del XM_017016782.2:c.-33+4842_-33+4846del XM_017016782.2:c.-33+4843_-33+4846del XM_017016782.2:c.-33+4844_-33+4846del XM_017016782.2:c.-33+4845_-33+4846del XM_017016782.2:c.-33+4846del XM_017016782.2:c.-33+4846dup XM_017016782.2:c.-33+4845_-33+4846dup XM_017016782.2:c.-33+4844_-33+4846dup XM_017016782.2:c.-33+4843_-33+4846dup XM_017016782.2:c.-33+4842_-33+4846dup XM_017016782.2:c.-33+4841_-33+4846dup XM_017016782.2:c.-33+4840_-33+4846dup XM_017016782.2:c.-33+4839_-33+4846dup XM_017016782.2:c.-33+4838_-33+4846dup
PHYHIPL transcript variant X3 XM_017016783.3:c.-33+4821= XM_017016783.3:c.-33+4832_-33+4846del XM_017016783.3:c.-33+4833_-33+4846del XM_017016783.3:c.-33+4834_-33+4846del XM_017016783.3:c.-33+4835_-33+4846del XM_017016783.3:c.-33+4837_-33+4846del XM_017016783.3:c.-33+4838_-33+4846del XM_017016783.3:c.-33+4839_-33+4846del XM_017016783.3:c.-33+4840_-33+4846del XM_017016783.3:c.-33+4841_-33+4846del XM_017016783.3:c.-33+4842_-33+4846del XM_017016783.3:c.-33+4843_-33+4846del XM_017016783.3:c.-33+4844_-33+4846del XM_017016783.3:c.-33+4845_-33+4846del XM_017016783.3:c.-33+4846del XM_017016783.3:c.-33+4846dup XM_017016783.3:c.-33+4845_-33+4846dup XM_017016783.3:c.-33+4844_-33+4846dup XM_017016783.3:c.-33+4843_-33+4846dup XM_017016783.3:c.-33+4842_-33+4846dup XM_017016783.3:c.-33+4841_-33+4846dup XM_017016783.3:c.-33+4840_-33+4846dup XM_017016783.3:c.-33+4839_-33+4846dup XM_017016783.3:c.-33+4838_-33+4846dup
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#.

48 SubSNP, 31 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss83811430 Dec 15, 2007 (129)
2 HUMANGENOME_JCVI ss95542480 Feb 06, 2009 (130)
3 PJP ss294658808 Oct 12, 2018 (152)
4 PJP ss294658809 May 31, 2013 (138)
5 SWEGEN ss3006554900 Nov 08, 2017 (151)
6 EVA_DECODE ss3689970950 Jul 13, 2019 (153)
7 EVA_DECODE ss3689970951 Jul 13, 2019 (153)
8 EVA_DECODE ss3689970952 Jul 13, 2019 (153)
9 EVA_DECODE ss3689970953 Jul 13, 2019 (153)
10 PACBIO ss3796746413 Jul 13, 2019 (153)
11 PACBIO ss3796746414 Jul 13, 2019 (153)
12 KHV_HUMAN_GENOMES ss3813534457 Jul 13, 2019 (153)
13 EVA ss3832149918 Apr 26, 2020 (154)
14 GNOMAD ss4219343545 Apr 26, 2021 (155)
15 GNOMAD ss4219343546 Apr 26, 2021 (155)
16 GNOMAD ss4219343547 Apr 26, 2021 (155)
17 GNOMAD ss4219343548 Apr 26, 2021 (155)
18 GNOMAD ss4219343549 Apr 26, 2021 (155)
19 GNOMAD ss4219343550 Apr 26, 2021 (155)
20 GNOMAD ss4219343551 Apr 26, 2021 (155)
21 GNOMAD ss4219343555 Apr 26, 2021 (155)
22 GNOMAD ss4219343556 Apr 26, 2021 (155)
23 GNOMAD ss4219343557 Apr 26, 2021 (155)
24 GNOMAD ss4219343558 Apr 26, 2021 (155)
25 GNOMAD ss4219343559 Apr 26, 2021 (155)
26 GNOMAD ss4219343560 Apr 26, 2021 (155)
27 GNOMAD ss4219343561 Apr 26, 2021 (155)
28 GNOMAD ss4219343562 Apr 26, 2021 (155)
29 GNOMAD ss4219343563 Apr 26, 2021 (155)
30 GNOMAD ss4219343564 Apr 26, 2021 (155)
31 TOMMO_GENOMICS ss5197843626 Apr 26, 2021 (155)
32 TOMMO_GENOMICS ss5197843627 Apr 26, 2021 (155)
33 TOMMO_GENOMICS ss5197843628 Apr 26, 2021 (155)
34 TOMMO_GENOMICS ss5197843629 Apr 26, 2021 (155)
35 TOMMO_GENOMICS ss5197843630 Apr 26, 2021 (155)
36 TOMMO_GENOMICS ss5197843631 Apr 26, 2021 (155)
37 HUGCELL_USP ss5479771238 Oct 16, 2022 (156)
38 HUGCELL_USP ss5479771239 Oct 16, 2022 (156)
39 HUGCELL_USP ss5479771240 Oct 16, 2022 (156)
40 HUGCELL_USP ss5479771241 Oct 16, 2022 (156)
41 HUGCELL_USP ss5479771242 Oct 16, 2022 (156)
42 HUGCELL_USP ss5479771243 Oct 16, 2022 (156)
43 TOMMO_GENOMICS ss5743734657 Oct 16, 2022 (156)
44 TOMMO_GENOMICS ss5743734658 Oct 16, 2022 (156)
45 TOMMO_GENOMICS ss5743734659 Oct 16, 2022 (156)
46 TOMMO_GENOMICS ss5743734660 Oct 16, 2022 (156)
47 TOMMO_GENOMICS ss5743734661 Oct 16, 2022 (156)
48 TOMMO_GENOMICS ss5743734662 Oct 16, 2022 (156)
49 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

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

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

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

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

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

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

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

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

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

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

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

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

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

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

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

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

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

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

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

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

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

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

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

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

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

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

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

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

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

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

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

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

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

Submission ignored due to conflicting rows:
Row 353560912 (NC_000010.11:59211664::A 371/70142)
Row 353560913 (NC_000010.11:59211664::AAA 27975/69644)
Row 353560914 (NC_000010.11:59211664::AAAA 10254/69886)...

- Apr 26, 2021 (155)
67 8.3KJPN

Submission ignored due to conflicting rows:
Row 55812933 (NC_000010.10:60971424:AAA: 870/13132)
Row 55812934 (NC_000010.10:60971424:AA: 974/13132)
Row 55812935 (NC_000010.10:60971424::AAAA 1709/13132)...

- Apr 26, 2021 (155)
68 8.3KJPN

Submission ignored due to conflicting rows:
Row 55812933 (NC_000010.10:60971424:AAA: 870/13132)
Row 55812934 (NC_000010.10:60971424:AA: 974/13132)
Row 55812935 (NC_000010.10:60971424::AAAA 1709/13132)...

- Apr 26, 2021 (155)
69 8.3KJPN

Submission ignored due to conflicting rows:
Row 55812933 (NC_000010.10:60971424:AAA: 870/13132)
Row 55812934 (NC_000010.10:60971424:AA: 974/13132)
Row 55812935 (NC_000010.10:60971424::AAAA 1709/13132)...

- Apr 26, 2021 (155)
70 8.3KJPN

Submission ignored due to conflicting rows:
Row 55812933 (NC_000010.10:60971424:AAA: 870/13132)
Row 55812934 (NC_000010.10:60971424:AA: 974/13132)
Row 55812935 (NC_000010.10:60971424::AAAA 1709/13132)...

- Apr 26, 2021 (155)
71 8.3KJPN

Submission ignored due to conflicting rows:
Row 55812933 (NC_000010.10:60971424:AAA: 870/13132)
Row 55812934 (NC_000010.10:60971424:AA: 974/13132)
Row 55812935 (NC_000010.10:60971424::AAAA 1709/13132)...

- Apr 26, 2021 (155)
72 8.3KJPN

Submission ignored due to conflicting rows:
Row 55812933 (NC_000010.10:60971424:AAA: 870/13132)
Row 55812934 (NC_000010.10:60971424:AA: 974/13132)
Row 55812935 (NC_000010.10:60971424::AAAA 1709/13132)...

- Apr 26, 2021 (155)
73 14KJPN

Submission ignored due to conflicting rows:
Row 77571761 (NC_000010.11:59211664:AA: 2188/26074)
Row 77571762 (NC_000010.11:59211664:AAA: 1969/26074)
Row 77571763 (NC_000010.11:59211664::AAAA 4920/26074)...

- Oct 16, 2022 (156)
74 14KJPN

Submission ignored due to conflicting rows:
Row 77571761 (NC_000010.11:59211664:AA: 2188/26074)
Row 77571762 (NC_000010.11:59211664:AAA: 1969/26074)
Row 77571763 (NC_000010.11:59211664::AAAA 4920/26074)...

- Oct 16, 2022 (156)
75 14KJPN

Submission ignored due to conflicting rows:
Row 77571761 (NC_000010.11:59211664:AA: 2188/26074)
Row 77571762 (NC_000010.11:59211664:AAA: 1969/26074)
Row 77571763 (NC_000010.11:59211664::AAAA 4920/26074)...

- Oct 16, 2022 (156)
76 14KJPN

Submission ignored due to conflicting rows:
Row 77571761 (NC_000010.11:59211664:AA: 2188/26074)
Row 77571762 (NC_000010.11:59211664:AAA: 1969/26074)
Row 77571763 (NC_000010.11:59211664::AAAA 4920/26074)...

- Oct 16, 2022 (156)
77 14KJPN

Submission ignored due to conflicting rows:
Row 77571761 (NC_000010.11:59211664:AA: 2188/26074)
Row 77571762 (NC_000010.11:59211664:AAA: 1969/26074)
Row 77571763 (NC_000010.11:59211664::AAAA 4920/26074)...

- Oct 16, 2022 (156)
78 14KJPN

Submission ignored due to conflicting rows:
Row 77571761 (NC_000010.11:59211664:AA: 2188/26074)
Row 77571762 (NC_000010.11:59211664:AAA: 1969/26074)
Row 77571763 (NC_000010.11:59211664::AAAA 4920/26074)...

- Oct 16, 2022 (156)
79 ALFA NC_000010.11 - 59211665 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4219343564 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAA:

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4219343563 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAA:

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4219343562 NC_000010.11:59211664:AAAAAAAAA: NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4219343561 NC_000010.11:59211664:AAAAAAAA: NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4219343560 NC_000010.11:59211664:AAAAAAA: NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss5197843630 NC_000010.10:60971424:AAAAAA: NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4219343559 NC_000010.11:59211664:AAAAAA: NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4219343558 NC_000010.11:59211664:AAAAA: NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3689970953, ss4219343557 NC_000010.11:59211664:AAAA: NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3006554900, ss5197843626 NC_000010.10:60971424:AAA: NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4219343556, ss5479771240, ss5743734658 NC_000010.11:59211664:AAA: NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3689970952 NC_000010.11:59211665:AAA: NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3832149918, ss5197843627 NC_000010.10:60971424:AA: NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3813534457, ss4219343555, ss5479771242, ss5743734657 NC_000010.11:59211664:AA: NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
NC_000010.11:59211664:A: NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4219343545 NC_000010.11:59211664::A NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5479771239, ss5743734661 NC_000010.11:59211664::AA NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss294658808 NC_000010.9:60641431::AAA NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss294658809 NC_000010.9:60641454::AAA NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3796746413, ss5197843629 NC_000010.10:60971424::AAA NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4219343546, ss5479771238, ss5743734660 NC_000010.11:59211664::AAA NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3689970951 NC_000010.11:59211668::AAA NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss83811430, ss95542480 NT_030059.13:11775914::AAA NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3796746414, ss5197843628 NC_000010.10:60971424::AAAA NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4219343547, ss5479771241, ss5743734659 NC_000010.11:59211664::AAAA NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3689970950 NC_000010.11:59211668::AAAA NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5197843631 NC_000010.10:60971424::AAAAA NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4219343548, ss5479771243, ss5743734662 NC_000010.11:59211664::AAAAA NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4219343549 NC_000010.11:59211664::AAAAAAA NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4219343550 NC_000010.11:59211664::AAAAAAAA NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4219343551 NC_000010.11:59211664::AAAAAAAAA NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
5640598166 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3121057637 NC_000010.11:59211664::AAAAAA NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

ss3121057653 NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664:AAAAAAAAAAAAAA:

NC_000010.11:59211664:AAAAAAAAAAAA…

NC_000010.11:59211664: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 rs58992023

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