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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.

rs72651783

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:88855 (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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.023619 (2518/106610, GnomAD)
G=0.03842 (644/16760, 8.3KJPN)
C=0.00000 (0/12870, ALFA) (+ 12 more)
G=0.00000 (0/12870, ALFA)
G=0.0127 (49/3854, ALSPAC)
G=0.0111 (41/3708, TWINSUK)
G=0.0850 (249/2930, KOREAN)
G=0.0333 (61/1832, Korea1K)
G=0.022 (22/998, GoNL)
G=0.017 (10/600, NorthernSweden)
G=0.051 (11/216, Qatari)
T=0.50 (33/66, SGDP_PRJ)
G=0.50 (33/66, SGDP_PRJ)
T=0.5 (4/8, Siberian)
G=0.5 (4/8, 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.88855T>C
GRCh38.p13 chr 10 NC_000010.11:g.88855T>G
GRCh37.p13 chr 10 NC_000010.10:g.134795T>C
GRCh37.p13 chr 10 NC_000010.10:g.134795T>G
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.78855T>C
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.78855T>G
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 (New)
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 12870 T=1.00000 C=0.00000, G=0.00000
European Sub 9286 T=1.0000 C=0.0000, G=0.0000
African Sub 2082 T=1.0000 C=0.0000, G=0.0000
African Others Sub 82 T=1.00 C=0.00, G=0.00
African American Sub 2000 T=1.0000 C=0.0000, G=0.0000
Asian Sub 110 T=1.000 C=0.000, G=0.000
East Asian Sub 84 T=1.00 C=0.00, G=0.00
Other Asian Sub 26 T=1.00 C=0.00, G=0.00
Latin American 1 Sub 132 T=1.000 C=0.000, G=0.000
Latin American 2 Sub 550 T=1.000 C=0.000, G=0.000
South Asian Sub 96 T=1.00 C=0.00, G=0.00
Other Sub 614 T=1.000 C=0.000, G=0.000


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
gnomAD - Genomes Global Study-wide 106610 T=0.976381 G=0.023619
gnomAD - Genomes European Sub 60926 T=0.99087 G=0.00913
gnomAD - Genomes African Sub 28210 T=0.94318 G=0.05682
gnomAD - Genomes American Sub 10500 T=0.97610 G=0.02390
gnomAD - Genomes Ashkenazi Jewish Sub 2714 T=0.9904 G=0.0096
gnomAD - Genomes East Asian Sub 2626 T=0.9825 G=0.0175
gnomAD - Genomes Other Sub 1634 T=0.9780 G=0.0220
8.3KJPN JAPANESE Study-wide 16760 T=0.96158 G=0.03842
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9873 G=0.0127
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9889 G=0.0111
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.9150 G=0.0850
Korean Genome Project KOREAN Study-wide 1832 T=0.9667 G=0.0333
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.978 G=0.022
Northern Sweden ACPOP Study-wide 600 T=0.983 G=0.017
Qatari Global Study-wide 216 T=0.949 G=0.051
SGDP_PRJ Global Study-wide 66 T=0.50 G=0.50
Siberian Global Study-wide 8 T=0.5 G=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 T= C G
GRCh38.p13 chr 10 NC_000010.11:g.88855= NC_000010.11:g.88855T>C NC_000010.11:g.88855T>G
GRCh37.p13 chr 10 NC_000010.10:g.134795= NC_000010.10:g.134795T>C NC_000010.10:g.134795T>G
GRCh37.p13 chr 10 fix patch HG905_PATCH NW_003571043.1:g.78855= NW_003571043.1:g.78855T>C NW_003571043.1:g.78855T>G
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#.

19 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 ENSEMBL ss107936008 Feb 13, 2009 (130)
2 1000GENOMES ss335882919 May 09, 2011 (134)
3 EVA-GONL ss987096787 Aug 21, 2014 (142)
4 EVA_UK10K_ALSPAC ss1623797613 Apr 09, 2015 (144)
5 EVA_UK10K_TWINSUK ss1666791646 Apr 09, 2015 (144)
6 WEILL_CORNELL_DGM ss1930414772 Feb 17, 2016 (147)
7 USC_VALOUEV ss2154169633 Oct 12, 2018 (152)
8 HUMAN_LONGEVITY ss2171932793 Dec 20, 2016 (150)
9 GRF ss2698389031 Oct 12, 2018 (152)
10 SWEGEN ss3005784439 Oct 12, 2018 (152)
11 TOPMED ss3109332653 Nov 08, 2017 (151)
12 TOPMED ss3109332654 Nov 08, 2017 (151)
13 ACPOP ss3736974319 Jul 13, 2019 (153)
14 EVA ss3747627368 Jul 13, 2019 (153)
15 SGDP_PRJ ss3873326473 Apr 26, 2020 (154)
16 KRGDB ss3921253501 Apr 26, 2020 (154)
17 KOGIC ss3967022891 Apr 26, 2020 (154)
18 GNOMAD ss4211411042 Apr 26, 2021 (155)
19 TOMMO_GENOMICS ss5195848139 Apr 26, 2021 (155)
20 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 134795 Oct 12, 2018 (152)
21 gnomAD - Genomes NC_000010.11 - 88855 Apr 26, 2021 (155)
22 Genome of the Netherlands Release 5 NC_000010.10 - 134795 Apr 26, 2020 (154)
23 KOREAN population from KRGDB NC_000010.10 - 134795 Apr 26, 2020 (154)
24 Korean Genome Project NC_000010.11 - 88855 Apr 26, 2020 (154)
25 Northern Sweden NC_000010.10 - 134795 Jul 13, 2019 (153)
26 Qatari NC_000010.10 - 134795 Apr 26, 2020 (154)
27 SGDP_PRJ NC_000010.10 - 134795 Apr 26, 2020 (154)
28 Siberian NC_000010.10 - 134795 Apr 26, 2020 (154)
29 8.3KJPN NC_000010.10 - 134795 Apr 26, 2021 (155)
30 UK 10K study - Twins NC_000010.10 - 134795 Oct 12, 2018 (152)
31 ALFA NC_000010.11 - 88855 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
34602754, 2392022675, ss3109332653 NC_000010.11:88854:T:C NC_000010.11:88854:T:C (self)
26806397, 11953914, 28430895, 10259184, 12456702, 25343453, 6685987, 53817446, 26806397, ss335882919, ss987096787, ss1623797613, ss1666791646, ss1930414772, ss2154169633, ss2698389031, ss3005784439, ss3736974319, ss3747627368, ss3873326473, ss3921253501, ss5195848139 NC_000010.10:134794:T:G NC_000010.11:88854:T:G (self)
340934224, 23400892, 2392022675, ss2171932793, ss3109332654, ss3967022891, ss4211411042 NC_000010.11:88854:T:G NC_000010.11:88854:T:G (self)
ss107936008 NT_008705.16:74794:T:G NC_000010.11:88854:T:G (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 rs72651783

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