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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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr1:103250 (GRCh38.p13) 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.

Variation Type
SNV Single Nucleotide Variation
A=0.135645 (15537/114542, GnomAD)
A=0.01062 (178/16760, 8.3KJPN)
A=0.19003 (3102/16324, ALFA) (+ 4 more)
A=0.0133 (39/2922, KOREAN)
A=0.0136 (25/1832, Korea1K)
G=0.50 (49/98, SGDP_PRJ)
A=0.50 (49/98, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC100996442 : Intron Variant
0 citations
Genomic View
See rs on genome

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.p13 chr 1 NC_000001.11:g.103250G>A
GRCh37.p13 chr 1 NC_000001.10:g.103250G>A
Gene: LOC100996442, uncharacterized LOC100996442 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC100996442 transcript variant X4 XR_001737578.2:n. N/A Intron Variant
LOC100996442 transcript variant X8 XR_001737580.2:n. N/A Intron Variant
LOC100996442 transcript variant X11 XR_001737581.2:n. N/A Intron Variant
LOC100996442 transcript variant X12 XR_001737582.2:n. N/A Intron Variant
LOC100996442 transcript variant X13 XR_001737583.2:n. N/A Intron Variant
LOC100996442 transcript variant X14 XR_001737584.2:n. N/A Intron Variant
LOC100996442 transcript variant X5 XR_001737579.2:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X1 XR_002958514.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X2 XR_002958515.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X3 XR_002958516.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X6 XR_002958517.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X7 XR_002958518.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X9 XR_002958519.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X10 XR_002958520.1:n. N/A Genic Downstream Transcript Variant

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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 16324 G=0.80997 A=0.19003
European Sub 12072 G=0.76806 A=0.23194
African Sub 2816 G=0.9524 A=0.0476
African Others Sub 108 G=0.991 A=0.009
African American Sub 2708 G=0.9509 A=0.0491
Asian Sub 108 G=1.000 A=0.000
East Asian Sub 84 G=1.00 A=0.00
Other Asian Sub 24 G=1.00 A=0.00
Latin American 1 Sub 146 G=0.890 A=0.110
Latin American 2 Sub 610 G=0.880 A=0.120
South Asian Sub 94 G=0.80 A=0.20
Other Sub 478 G=0.874 A=0.126


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").

Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Genomes Global Study-wide 114542 G=0.864355 A=0.135645
gnomAD - Genomes European Sub 58334 G=0.79023 A=0.20977
gnomAD - Genomes African Sub 38472 G=0.96730 A=0.03270
gnomAD - Genomes American Sub 10384 G=0.88280 A=0.11720
gnomAD - Genomes East Asian Sub 3070 G=0.9980 A=0.0020
gnomAD - Genomes Ashkenazi Jewish Sub 2554 G=0.7537 A=0.2463
gnomAD - Genomes Other Sub 1728 G=0.8900 A=0.1100
8.3KJPN JAPANESE Study-wide 16760 G=0.98938 A=0.01062
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9867 A=0.0133
Korean Genome Project KOREAN Study-wide 1832 G=0.9864 A=0.0136
SGDP_PRJ Global Study-wide 98 G=0.50 A=0.50

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 G= A
GRCh38.p13 chr 1 NC_000001.11:g.103250= NC_000001.11:g.103250G>A
GRCh37.p13 chr 1 NC_000001.10:g.103250= NC_000001.10:g.103250G>A

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#.

10 SubSNP, 6 Frequency submissions
No Submitter Submission ID Date (Build)
1 ENSEMBL ss142847966 Dec 01, 2009 (131)
2 PADH-LAB_SPU ss1713846954 Sep 08, 2015 (147)
3 JJLAB ss2019497648 Sep 14, 2016 (149)
4 GNOMAD ss2750608435 Nov 08, 2017 (151)
5 SWEGEN ss2986142841 Nov 08, 2017 (151)
6 TOPMED ss3066331284 Nov 08, 2017 (151)
7 SGDP_PRJ ss3847985432 Apr 25, 2020 (154)
8 KRGDB ss3892825234 Apr 25, 2020 (154)
9 KOGIC ss3943623578 Apr 25, 2020 (154)
10 TOMMO_GENOMICS ss5142035496 Apr 25, 2021 (155)
11 gnomAD - Genomes NC_000001.11 - 103250 Apr 25, 2021 (155)
12 KOREAN population from KRGDB NC_000001.10 - 103250 Apr 25, 2020 (154)
13 Korean Genome Project NC_000001.11 - 103250 Apr 25, 2020 (154)
14 SGDP_PRJ NC_000001.10 - 103250 Apr 25, 2020 (154)
15 8.3KJPN NC_000001.10 - 103250 Apr 25, 2021 (155)
16 ALFA NC_000001.11 - 103250 Apr 25, 2021 (155)

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)
rs796779951 Jul 19, 2016 (147)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2628, 2412, 4803, ss1713846954, ss2019497648, ss2750608435, ss2986142841, ss3847985432, ss3892825234, ss5142035496 NC_000001.10:103249:G:A NC_000001.11:103249:G:A (self)
12954, 1579, 5361216634, ss3066331284, ss3943623578 NC_000001.11:103249:G:A NC_000001.11:103249:G:A (self)
ss142847966 NT_077402.2:93249:G:A NC_000001.11:103249:G:A (self)

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

No publications for rs76165594


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.post596+ae089ad