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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
chr1:899712 (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
G=0.014968 (3962/264690, TOPMED)
G=0.018576 (2606/140288, GnomAD)
G=0.02750 (830/30184, ALFA) (+ 12 more)
G=0.0052 (26/5008, 1000G)
G=0.0513 (230/4480, Estonian)
G=0.0234 (90/3854, ALSPAC)
G=0.0235 (87/3708, TWINSUK)
G=0.036 (36/998, GoNL)
G=0.030 (18/600, NorthernSweden)
G=0.005 (1/216, Qatari)
G=0.03 (1/40, GENOME_DK)
T=0.5 (3/6, SGDP_PRJ)
G=0.5 (3/6, SGDP_PRJ)
T=0.5 (1/2, Siberian)
G=0.5 (1/2, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
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.899712T>G
GRCh37.p13 chr 1 NC_000001.10:g.835092T>G

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 30184 T=0.97250 G=0.02750
European Sub 24706 T=0.96855 G=0.03145
African Sub 3168 T=0.9946 G=0.0054
African Others Sub 124 T=1.000 G=0.000
African American Sub 3044 T=0.9944 G=0.0056
Asian Sub 128 T=1.000 G=0.000
East Asian Sub 100 T=1.00 G=0.00
Other Asian Sub 28 T=1.00 G=0.00
Latin American 1 Sub 168 T=0.988 G=0.012
Latin American 2 Sub 700 T=0.993 G=0.007
South Asian Sub 114 T=0.982 G=0.018
Other Sub 1200 T=0.9775 G=0.0225


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
TopMed Global Study-wide 264690 T=0.985032 G=0.014968
gnomAD - Genomes Global Study-wide 140288 T=0.981424 G=0.018576
gnomAD - Genomes European Sub 75956 T=0.97023 G=0.02977
gnomAD - Genomes African Sub 42060 T=0.99603 G=0.00397
gnomAD - Genomes American Sub 13664 T=0.99093 G=0.00907
gnomAD - Genomes Ashkenazi Jewish Sub 3322 T=0.9943 G=0.0057
gnomAD - Genomes East Asian Sub 3132 T=1.0000 G=0.0000
gnomAD - Genomes Other Sub 2154 T=0.9838 G=0.0162
1000Genomes Global Study-wide 5008 T=0.9948 G=0.0052
1000Genomes African Sub 1322 T=1.0000 G=0.0000
1000Genomes East Asian Sub 1008 T=1.0000 G=0.0000
1000Genomes Europe Sub 1006 T=0.9801 G=0.0199
1000Genomes South Asian Sub 978 T=0.995 G=0.005
1000Genomes American Sub 694 T=0.999 G=0.001
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9487 G=0.0513
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9766 G=0.0234
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9765 G=0.0235
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.964 G=0.036
Northern Sweden ACPOP Study-wide 600 T=0.970 G=0.030
Qatari Global Study-wide 216 T=0.995 G=0.005
The Danish reference pan genome Danish Study-wide 40 T=0.97 G=0.03
SGDP_PRJ Global Study-wide 6 T=0.5 G=0.5
Siberian Global Study-wide 2 T=0.5 G=0.5

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 T= G
GRCh38.p13 chr 1 NC_000001.11:g.899712= NC_000001.11:g.899712T>G
GRCh37.p13 chr 1 NC_000001.10:g.835092= NC_000001.10:g.835092T>G

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#.

32 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss107938317 Feb 13, 2009 (130)
2 1000GENOMES ss230395755 Jul 14, 2010 (132)
3 ILLUMINA ss482414855 May 04, 2012 (137)
4 ILLUMINA ss483347196 May 04, 2012 (137)
5 ILLUMINA ss535560984 Sep 08, 2015 (146)
6 ILLUMINA ss780243139 Sep 08, 2015 (146)
7 ILLUMINA ss782116724 Sep 08, 2015 (146)
8 ILLUMINA ss835728624 Sep 08, 2015 (146)
9 EVA-GONL ss974769875 Aug 21, 2014 (142)
10 1000GENOMES ss1289341294 Aug 21, 2014 (142)
11 EVA_GENOME_DK ss1573851301 Apr 01, 2015 (144)
12 EVA_DECODE ss1584129796 Apr 01, 2015 (144)
13 EVA_UK10K_ALSPAC ss1599378810 Apr 01, 2015 (144)
14 EVA_UK10K_TWINSUK ss1642372843 Apr 01, 2015 (144)
15 WEILL_CORNELL_DGM ss1917961225 Feb 12, 2016 (147)
16 USC_VALOUEV ss2147485159 Dec 20, 2016 (150)
17 HUMAN_LONGEVITY ss2159368360 Dec 20, 2016 (150)
18 TOPMED ss2321507022 Dec 20, 2016 (150)
19 ILLUMINA ss2632465496 Nov 08, 2017 (151)
20 GNOMAD ss2750645877 Nov 08, 2017 (151)
21 SWEGEN ss2986150584 Nov 08, 2017 (151)
22 TOPMED ss3066413420 Nov 08, 2017 (151)
23 ILLUMINA ss3626006591 Oct 11, 2018 (152)
24 ILLUMINA ss3630505617 Oct 11, 2018 (152)
25 ILLUMINA ss3641566182 Oct 11, 2018 (152)
26 EGCUT_WGS ss3654261786 Jul 12, 2019 (153)
27 EVA_DECODE ss3685992990 Jul 12, 2019 (153)
28 ACPOP ss3726716726 Jul 12, 2019 (153)
29 EVA ss3836378529 Apr 25, 2020 (154)
30 EVA ss3841782543 Apr 25, 2020 (154)
31 SGDP_PRJ ss3847997285 Apr 25, 2020 (154)
32 TOPMED ss4436448002 Apr 25, 2021 (155)
33 1000Genomes NC_000001.10 - 835092 Oct 11, 2018 (152)
34 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 835092 Oct 11, 2018 (152)
35 Genetic variation in the Estonian population NC_000001.10 - 835092 Oct 11, 2018 (152)
36 The Danish reference pan genome NC_000001.10 - 835092 Apr 25, 2020 (154)
37 gnomAD - Genomes NC_000001.11 - 899712 Apr 25, 2021 (155)
38 Genome of the Netherlands Release 5 NC_000001.10 - 835092 Apr 25, 2020 (154)
39 Northern Sweden NC_000001.10 - 835092 Jul 12, 2019 (153)
40 Qatari NC_000001.10 - 835092 Apr 25, 2020 (154)
41 SGDP_PRJ NC_000001.10 - 835092 Apr 25, 2020 (154)
42 Siberian NC_000001.10 - 835092 Apr 25, 2020 (154)
43 TopMed NC_000001.11 - 899712 Apr 25, 2021 (155)
44 UK 10K study - Twins NC_000001.10 - 835092 Oct 11, 2018 (152)
45 ALFA NC_000001.11 - 899712 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss107938317, ss482414855, ss1584129796 NC_000001.9:824954:T:G NC_000001.11:899711:T:G (self)
6104, 833, 34, 1358535, 843, 1591, 3155, 14265, 1513, 833, ss230395755, ss483347196, ss535560984, ss780243139, ss782116724, ss835728624, ss974769875, ss1289341294, ss1573851301, ss1599378810, ss1642372843, ss1917961225, ss2147485159, ss2321507022, ss2632465496, ss2750645877, ss2986150584, ss3626006591, ss3630505617, ss3641566182, ss3654261786, ss3726716726, ss3836378529, ss3847997285 NC_000001.10:835091:T:G NC_000001.11:899711:T:G (self)
78491, 26126, 54337, 3007303289, ss2159368360, ss3066413420, ss3685992990, ss3841782543, ss4436448002 NC_000001.11:899711:T:G NC_000001.11:899711:T:G (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 rs72631887


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