Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs72651781

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:88835 (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.

Alleles
G>A / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.00000 (0/78540, PAGE_STUDY)
T=0.03616 (606/16758, 8.3KJPN)
T=0.00333 (36/10810, ALFA) (+ 11 more)
T=0.1318 (660/5008, 1000G)
T=0.0187 (72/3854, ALSPAC)
T=0.0191 (71/3708, TWINSUK)
T=0.0606 (177/2922, KOREAN)
T=0.0317 (58/1832, Korea1K)
T=0.032 (32/998, GoNL)
T=0.013 (8/600, NorthernSweden)
T=0.079 (17/216, Qatari)
G=0.491 (56/114, SGDP_PRJ)
G=0.5 (5/10, Siberian)
T=0.5 (5/10, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 10 NC_000010.11:g.88835G>A
GRCh38.p13 chr 10 NC_000010.11:g.88835G>T
GRCh37.p13 chr 10 NC_000010.10:g.134775G>A
GRCh37.p13 chr 10 NC_000010.10:g.134775G>T
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.78835G>A
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.78835G>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

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 10810 G=0.99667 A=0.00000, T=0.00333
European Sub 7432 G=0.9995 A=0.0000, T=0.0005
African Sub 1890 G=0.9915 A=0.0000, T=0.0085
African Others Sub 54 G=1.00 A=0.00, T=0.00
African American Sub 1836 G=0.9913 A=0.0000, T=0.0087
Asian Sub 104 G=1.000 A=0.000, T=0.000
East Asian Sub 80 G=1.00 A=0.00, T=0.00
Other Asian Sub 24 G=1.00 A=0.00, T=0.00
Latin American 1 Sub 122 G=1.000 A=0.000, T=0.000
Latin American 2 Sub 548 G=1.000 A=0.000, T=0.000
South Asian Sub 92 G=1.00 A=0.00, T=0.00
Other Sub 622 G=0.974 A=0.000, T=0.026


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
The PAGE Study Global Study-wide 78540 G=1.00000 T=0.00000
The PAGE Study AfricanAmerican Sub 32400 G=1.00000 T=0.00000
The PAGE Study Mexican Sub 10800 G=1.00000 T=0.00000
The PAGE Study Asian Sub 8316 G=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7904 G=1.0000 T=0.0000
The PAGE Study NativeHawaiian Sub 4528 G=1.0000 T=0.0000
The PAGE Study Cuban Sub 4228 G=1.0000 T=0.0000
The PAGE Study Dominican Sub 3820 G=1.0000 T=0.0000
The PAGE Study CentralAmerican Sub 2446 G=1.0000 T=0.0000
The PAGE Study SouthAmerican Sub 1982 G=1.0000 T=0.0000
The PAGE Study NativeAmerican Sub 1260 G=1.0000 T=0.0000
The PAGE Study SouthAsian Sub 856 G=1.000 T=0.000
8.3KJPN JAPANESE Study-wide 16758 G=0.96384 T=0.03616
Allele Frequency Aggregator Total Global 10810 G=0.99667 A=0.00000, T=0.00333
Allele Frequency Aggregator European Sub 7432 G=0.9995 A=0.0000, T=0.0005
Allele Frequency Aggregator African Sub 1890 G=0.9915 A=0.0000, T=0.0085
Allele Frequency Aggregator Other Sub 622 G=0.974 A=0.000, T=0.026
Allele Frequency Aggregator Latin American 2 Sub 548 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 122 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator Asian Sub 104 G=1.000 A=0.000, T=0.000
Allele Frequency Aggregator South Asian Sub 92 G=1.00 A=0.00, T=0.00
1000Genomes Global Study-wide 5008 G=0.8682 T=0.1318
1000Genomes African Sub 1322 G=0.6445 T=0.3555
1000Genomes East Asian Sub 1008 G=0.9375 T=0.0625
1000Genomes Europe Sub 1006 G=0.9732 T=0.0268
1000Genomes South Asian Sub 978 G=0.973 T=0.027
1000Genomes American Sub 694 G=0.893 T=0.107
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9813 T=0.0187
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9809 T=0.0191
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9394 T=0.0606
Korean Genome Project KOREAN Study-wide 1832 G=0.9683 T=0.0317
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.968 T=0.032
Northern Sweden ACPOP Study-wide 600 G=0.987 T=0.013
Qatari Global Study-wide 216 G=0.921 T=0.079
SGDP_PRJ Global Study-wide 114 G=0.491 T=0.509
Siberian Global Study-wide 10 G=0.5 T=0.5
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 G= A T
GRCh38.p13 chr 10 NC_000010.11:g.88835= NC_000010.11:g.88835G>A NC_000010.11:g.88835G>T
GRCh37.p13 chr 10 NC_000010.10:g.134775= NC_000010.10:g.134775G>A NC_000010.10:g.134775G>T
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.78835= NW_003571043.1:g.78835G>A NW_003571043.1:g.78835G>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#.

33 SubSNP, 15 Frequency submissions
No Submitter Submission ID Date (Build)
1 ENSEMBL ss107936006 Feb 13, 2009 (130)
2 COMPLETE_GENOMICS ss168823583 Jul 04, 2010 (132)
3 1000GENOMES ss210876170 Jul 14, 2010 (132)
4 1000GENOMES ss224512390 Jul 14, 2010 (132)
5 EVA-GONL ss987096785 Aug 21, 2014 (142)
6 1000GENOMES ss1335912951 Aug 21, 2014 (142)
7 EVA_UK10K_ALSPAC ss1623797610 Apr 09, 2015 (144)
8 EVA_UK10K_TWINSUK ss1666791643 Apr 09, 2015 (144)
9 WEILL_CORNELL_DGM ss1930414770 Feb 17, 2016 (147)
10 ILLUMINA ss1959231573 Feb 17, 2016 (147)
11 ILLUMINA ss1959231574 Feb 17, 2016 (147)
12 USC_VALOUEV ss2154169631 Oct 12, 2018 (152)
13 HUMAN_LONGEVITY ss2171932790 Dec 20, 2016 (150)
14 GRF ss2698389029 Oct 12, 2018 (152)
15 GNOMAD ss2884519319 Oct 12, 2018 (152)
16 SWEGEN ss3005784437 Oct 12, 2018 (152)
17 ILLUMINA ss3021205015 Oct 12, 2018 (152)
18 ILLUMINA ss3021205016 Oct 12, 2018 (152)
19 TOPMED ss3109332645 Nov 08, 2017 (151)
20 TOPMED ss3109332646 Nov 08, 2017 (151)
21 ILLUMINA ss3651551866 Oct 12, 2018 (152)
22 ILLUMINA ss3651551867 Oct 12, 2018 (152)
23 ILLUMINA ss3725127339 Jul 13, 2019 (153)
24 ACPOP ss3736974317 Jul 13, 2019 (153)
25 EVA ss3747627366 Jul 13, 2019 (153)
26 PAGE_CC ss3771535452 Jul 13, 2019 (153)
27 KHV_HUMAN_GENOMES ss3812993346 Jul 13, 2019 (153)
28 SGDP_PRJ ss3873326471 Apr 26, 2020 (154)
29 KRGDB ss3921253499 Apr 26, 2020 (154)
30 KOGIC ss3967022889 Apr 26, 2020 (154)
31 GNOMAD ss4211411033 Apr 26, 2021 (155)
32 GNOMAD ss4211411035 Apr 26, 2021 (155)
33 TOMMO_GENOMICS ss5195848135 Apr 26, 2021 (155)
34 1000Genomes NC_000010.10 - 134775 Oct 12, 2018 (152)
35 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 134775 Oct 12, 2018 (152)
36 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 340934215 (NC_000010.11:88834:G:A 3/134116)
Row 340934217 (NC_000010.11:88834:G:T 8946/130354)

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

Submission ignored due to conflicting rows:
Row 340934215 (NC_000010.11:88834:G:A 3/134116)
Row 340934217 (NC_000010.11:88834:G:T 8946/130354)

- Apr 26, 2021 (155)
38 Genome of the Netherlands Release 5 NC_000010.10 - 134775 Apr 26, 2020 (154)
39 KOREAN population from KRGDB NC_000010.10 - 134775 Apr 26, 2020 (154)
40 Korean Genome Project NC_000010.11 - 88835 Apr 26, 2020 (154)
41 Northern Sweden NC_000010.10 - 134775 Jul 13, 2019 (153)
42 The PAGE Study NC_000010.11 - 88835 Jul 13, 2019 (153)
43 Qatari NC_000010.10 - 134775 Apr 26, 2020 (154)
44 SGDP_PRJ NC_000010.10 - 134775 Apr 26, 2020 (154)
45 Siberian NC_000010.10 - 134775 Apr 26, 2020 (154)
46 8.3KJPN NC_000010.10 - 134775 Apr 26, 2021 (155)
47 UK 10K study - Twins NC_000010.10 - 134775 Oct 12, 2018 (152)
48 ALFA NC_000010.11 - 88835 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
ss2884519319 NC_000010.10:134774:G:A NC_000010.11:88834:G:A (self)
476686307, ss2171932790, ss3109332645, ss4211411033 NC_000010.11:88834:G:A NC_000010.11:88834:G:A (self)
ss168823583, ss210876170 NC_000010.9:124774:G:T NC_000010.11:88834:G:T (self)
48246660, 26806394, 11953912, 28430893, 10259182, 12456700, 25343451, 6685985, 53817442, 26806394, ss224512390, ss987096785, ss1335912951, ss1623797610, ss1666791643, ss1930414770, ss1959231573, ss1959231574, ss2154169631, ss2698389029, ss2884519319, ss3005784437, ss3021205015, ss3021205016, ss3651551866, ss3651551867, ss3736974317, ss3747627366, ss3873326471, ss3921253499, ss5195848135 NC_000010.10:134774:G:T NC_000010.11:88834:G:T (self)
23400890, 756921, 476686307, ss2171932790, ss3109332646, ss3725127339, ss3771535452, ss3812993346, ss3967022889, ss4211411035 NC_000010.11:88834:G:T NC_000010.11:88834:G:T (self)
ss107936006 NT_008705.16:74774:G:T NC_000010.11:88834:G: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 rs72651781

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.post596+ae089ad