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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.

rs73971634

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:196497 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.024961 (6607/264690, TOPMED)
T=0.022919 (3212/140146, GnomAD)
T=0.01345 (254/18890, ALFA) (+ 5 more)
T=0.0222 (142/6404, 1000G_30x)
T=0.0206 (103/5008, 1000G)
T=0.0002 (1/4480, Estonian)
C=0.5 (4/8, SGDP_PRJ)
T=0.5 (4/8, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 18890 C=0.98655 T=0.01345
European Sub 14286 C=0.99958 T=0.00042
African Sub 2946 C=0.9226 T=0.0774
African Others Sub 114 C=0.886 T=0.114
African American Sub 2832 C=0.9241 T=0.0759
Asian Sub 112 C=1.000 T=0.000
East Asian Sub 86 C=1.00 T=0.00
Other Asian Sub 26 C=1.00 T=0.00
Latin American 1 Sub 146 C=0.979 T=0.021
Latin American 2 Sub 610 C=0.990 T=0.010
South Asian Sub 98 C=1.00 T=0.00
Other Sub 692 C=0.984 T=0.016


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
TopMed Global Study-wide 264690 C=0.975039 T=0.024961
gnomAD - Genomes Global Study-wide 140146 C=0.977081 T=0.022919
gnomAD - Genomes European Sub 75916 C=0.99980 T=0.00020
gnomAD - Genomes African Sub 41976 C=0.92715 T=0.07285
gnomAD - Genomes American Sub 13650 C=0.99267 T=0.00733
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2148 C=0.9818 T=0.0182
Allele Frequency Aggregator Total Global 18890 C=0.98655 T=0.01345
Allele Frequency Aggregator European Sub 14286 C=0.99958 T=0.00042
Allele Frequency Aggregator African Sub 2946 C=0.9226 T=0.0774
Allele Frequency Aggregator Other Sub 692 C=0.984 T=0.016
Allele Frequency Aggregator Latin American 2 Sub 610 C=0.990 T=0.010
Allele Frequency Aggregator Latin American 1 Sub 146 C=0.979 T=0.021
Allele Frequency Aggregator Asian Sub 112 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
1000Genomes_30x Global Study-wide 6404 C=0.9778 T=0.0222
1000Genomes_30x African Sub 1786 C=0.9244 T=0.0756
1000Genomes_30x Europe Sub 1266 C=1.0000 T=0.0000
1000Genomes_30x South Asian Sub 1202 C=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=0.993 T=0.007
1000Genomes Global Study-wide 5008 C=0.9794 T=0.0206
1000Genomes African Sub 1322 C=0.9251 T=0.0749
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=1.0000 T=0.0000
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=0.994 T=0.006
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9998 T=0.0002
SGDP_PRJ Global Study-wide 8 C=0.5 T=0.5
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 17 NC_000017.11:g.196497C>T
GRCh37.p13 chr 17 fix patch HG417_PATCH NW_004070872.2:g.136495C>T
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG1 NW_003315952.3:g.135148C>T
GRCh37.p13 chr 17 NC_000017.10:g.46288C>T
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 C= T
GRCh38.p14 chr 17 NC_000017.11:g.196497= NC_000017.11:g.196497C>T
GRCh37.p13 chr 17 fix patch HG417_PATCH NW_004070872.2:g.136495= NW_004070872.2:g.136495C>T
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG1 NW_003315952.3:g.135148= NW_003315952.3:g.135148C>T
GRCh37.p13 chr 17 NC_000017.10:g.46288= NC_000017.10:g.46288C>T
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#.

18 SubSNP, 7 Frequency submissions
No Submitter Submission ID Date (Build)
1 ILLUMINA-UK ss117967074 Feb 14, 2009 (130)
2 1000GENOMES ss339497505 May 09, 2011 (134)
3 TISHKOFF ss565113782 Apr 25, 2013 (138)
4 1000GENOMES ss1357570793 Aug 28, 2014 (142)
5 HAMMER_LAB ss1808663736 Sep 08, 2015 (146)
6 HUMAN_LONGEVITY ss2214838719 Dec 20, 2016 (150)
7 GNOMAD ss2946736035 Nov 08, 2017 (151)
8 EGCUT_WGS ss3682022104 Jul 13, 2019 (153)
9 KHV_HUMAN_GENOMES ss3819615999 Jul 13, 2019 (153)
10 SGDP_PRJ ss3885145384 Apr 27, 2020 (154)
11 TOPMED ss5026702636 Apr 26, 2021 (155)
12 1000G_HIGH_COVERAGE ss5302117220 Oct 17, 2022 (156)
13 EVA ss5425841540 Oct 17, 2022 (156)
14 HUGCELL_USP ss5495334996 Oct 17, 2022 (156)
15 1000G_HIGH_COVERAGE ss5605344491 Oct 17, 2022 (156)
16 SANFORD_IMAGENETICS ss5659551488 Oct 17, 2022 (156)
17 EVA ss5912897432 Oct 17, 2022 (156)
18 EVA ss5950964342 Oct 17, 2022 (156)
19 1000Genomes NC_000017.10 - 46288 Oct 12, 2018 (152)
20 1000Genomes_30x NC_000017.11 - 196497 Oct 17, 2022 (156)
21 Genetic variation in the Estonian population NC_000017.10 - 46288 Oct 12, 2018 (152)
22 gnomAD - Genomes NC_000017.11 - 196497 Apr 26, 2021 (155)
23 SGDP_PRJ NC_000017.10 - 46288 Apr 27, 2020 (154)
24 TopMed NC_000017.11 - 196497 Apr 26, 2021 (155)
25 ALFA NC_000017.11 - 196497 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
ss117967074 NC_000017.9:46287:C:T NC_000017.11:196496:C:T (self)
70772353, 27760352, 37162364, ss339497505, ss565113782, ss1357570793, ss1808663736, ss2946736035, ss3682022104, ss3885145384, ss5425841540, ss5659551488, ss5950964342 NC_000017.10:46287:C:T NC_000017.11:196496:C:T (self)
92870426, 499076818, 242248298, 12703315148, ss2214838719, ss3819615999, ss5026702636, ss5302117220, ss5495334996, ss5605344491, ss5912897432 NC_000017.11:196496:C:T NC_000017.11:196496:C:T (self)
Help

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

No publications for rs73971634

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.post761+d5e8e07