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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.

rs3011765

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:50689495 (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=0.393642 (104193/264690, TOPMED)
T=0.25124 (2732/10874, ALFA)
T=0.3431 (1718/5008, 1000G) (+ 7 more)
T=0.0689 (202/2930, KOREAN)
T=0.460 (276/600, NorthernSweden)
G=0.003 (1/328, HapMap)
G=0.367 (91/248, SGDP_PRJ)
T=0.389 (84/216, Qatari)
G=0.5 (1/2, Siberian)
T=0.5 (1/2, 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.50689495G>A
GRCh38.p13 chr 10 NC_000010.11:g.50689495G>T
GRCh37.p13 chr 10 NC_000010.10:g.52449255G>A
GRCh37.p13 chr 10 NC_000010.10:g.52449255G>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 (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 10874 G=0.74839 A=0.00037, T=0.25124
European Sub 9210 G=0.7085 A=0.0004, T=0.2911
African Sub 944 G=0.957 A=0.000, T=0.043
African Others Sub 44 G=0.98 A=0.00, T=0.02
African American Sub 900 G=0.956 A=0.000, T=0.044
Asian Sub 100 G=0.99 A=0.00, T=0.01
East Asian Sub 74 G=0.99 A=0.00, T=0.01
Other Asian Sub 26 G=1.00 A=0.00, T=0.00
Latin American 1 Sub 58 G=1.00 A=0.00, T=0.00
Latin American 2 Sub 320 G=1.000 A=0.000, T=0.000
South Asian Sub 36 G=1.00 A=0.00, T=0.00
Other Sub 206 G=0.956 A=0.000, T=0.044


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 G=0.606358 T=0.393642
1000Genomes Global Study-wide 5008 G=0.6558 A=0.0012, T=0.3431
1000Genomes African Sub 1322 G=0.5552 A=0.0008, T=0.4440
1000Genomes East Asian Sub 1008 G=0.9018 A=0.0000, T=0.0982
1000Genomes Europe Sub 1006 G=0.5706 A=0.0040, T=0.4254
1000Genomes South Asian Sub 978 G=0.596 A=0.000, T=0.404
1000Genomes American Sub 694 G=0.697 A=0.001, T=0.301
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.9307 A=0.0003, T=0.0689
Northern Sweden ACPOP Study-wide 600 G=0.540 T=0.460
HapMap Global Study-wide 328 G=0.003 T=0.997
HapMap African Sub 120 G=0.000 T=1.000
HapMap American Sub 120 G=0.008 T=0.992
HapMap Asian Sub 88 G=0.00 T=1.00
SGDP_PRJ Global Study-wide 248 G=0.367 A=0.020, T=0.613
Qatari Global Study-wide 216 G=0.611 T=0.389
Siberian Global Study-wide 2 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.50689495= NC_000010.11:g.50689495G>A NC_000010.11:g.50689495G>T
GRCh37.p13 chr 10 NC_000010.10:g.52449255= NC_000010.10:g.52449255G>A NC_000010.10:g.52449255G>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#.

57 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_JCM ss4237992 Nov 05, 2001 (101)
2 SC_SNP ss12953968 Dec 05, 2003 (119)
3 SC_SNP ss15770132 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss19168078 Feb 27, 2004 (120)
5 HGSV ss77214640 Dec 06, 2007 (129)
6 HGSV ss78108376 Dec 06, 2007 (129)
7 HGSV ss82253979 Dec 14, 2007 (130)
8 HGSV ss84586832 Dec 14, 2007 (130)
9 BCMHGSC_JDW ss88204015 Mar 23, 2008 (129)
10 BGI ss102876710 Dec 01, 2009 (131)
11 ENSEMBL ss131857725 Dec 01, 2009 (131)
12 ENSEMBL ss138664254 Dec 01, 2009 (131)
13 1000GENOMES ss210964632 Jul 14, 2010 (132)
14 1000GENOMES ss224712691 Jul 14, 2010 (132)
15 1000GENOMES ss235166394 Jul 15, 2010 (132)
16 1000GENOMES ss241874918 Jul 15, 2010 (132)
17 GMI ss280608169 May 04, 2012 (137)
18 GMI ss286185550 Apr 25, 2013 (138)
19 PJP ss290832341 May 09, 2011 (134)
20 TISHKOFF ss561944069 Apr 25, 2013 (138)
21 SSMP ss656696318 Apr 25, 2013 (138)
22 JMKIDD_LAB ss1076968932 Aug 21, 2014 (142)
23 1000GENOMES ss1337374976 Aug 21, 2014 (142)
24 1000GENOMES ss1337374977 Aug 21, 2014 (142)
25 DDI ss1426313677 Apr 01, 2015 (144)
26 EVA_UK10K_ALSPAC ss1624534825 Apr 01, 2015 (144)
27 EVA_UK10K_ALSPAC ss1624534826 Apr 01, 2015 (144)
28 EVA_UK10K_TWINSUK ss1667528858 Apr 01, 2015 (144)
29 EVA_UK10K_TWINSUK ss1667528859 Apr 01, 2015 (144)
30 HAMMER_LAB ss1806379627 Sep 08, 2015 (146)
31 WEILL_CORNELL_DGM ss1930828473 Feb 12, 2016 (147)
32 GENOMED ss1967121990 Jul 19, 2016 (147)
33 USC_VALOUEV ss2154409447 Dec 20, 2016 (150)
34 GRF ss2698651313 Nov 08, 2017 (151)
35 GNOMAD ss2888615608 Nov 08, 2017 (151)
36 SWEGEN ss3006449968 Nov 08, 2017 (151)
37 SWEGEN ss3006449969 Nov 08, 2017 (151)
38 TOPMED ss3119462874 Nov 08, 2017 (151)
39 TOPMED ss3119462875 Nov 08, 2017 (151)
40 CSHL ss3349111682 Nov 08, 2017 (151)
41 URBANLAB ss3649364835 Oct 12, 2018 (152)
42 ACPOP ss3737303791 Jul 13, 2019 (153)
43 EVA ss3748083083 Jul 13, 2019 (153)
44 PACBIO ss3786664748 Jul 13, 2019 (153)
45 PACBIO ss3791845672 Jul 13, 2019 (153)
46 PACBIO ss3796727630 Jul 13, 2019 (153)
47 KHV_HUMAN_GENOMES ss3813454311 Jul 13, 2019 (153)
48 EVA ss3832112596 Apr 26, 2020 (154)
49 EVA ss3839592665 Apr 26, 2020 (154)
50 EVA ss3845064314 Apr 26, 2020 (154)
51 SGDP_PRJ ss3874174897 Apr 26, 2020 (154)
52 KRGDB ss3922234864 Apr 26, 2020 (154)
53 KOGIC ss3967858931 Apr 26, 2020 (154)
54 KOGIC ss3967858932 Apr 26, 2020 (154)
55 TOPMED ss4851900635 Apr 26, 2021 (155)
56 TOMMO_GENOMICS ss5197570836 Apr 26, 2021 (155)
57 TOMMO_GENOMICS ss5197570837 Apr 26, 2021 (155)
58 1000Genomes NC_000010.10 - 52449255 Oct 12, 2018 (152)
59 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 27618466 (NC_000010.10:52449254:G:G 2241/3854, NC_000010.10:52449254:G:T 1613/3854)
Row 27618467 (NC_000010.10:52449254:G:G 3853/3854, NC_000010.10:52449254:G:A 1/3854)

- Oct 12, 2018 (152)
60 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 27618466 (NC_000010.10:52449254:G:G 2241/3854, NC_000010.10:52449254:G:T 1613/3854)
Row 27618467 (NC_000010.10:52449254:G:G 3853/3854, NC_000010.10:52449254:G:A 1/3854)

- Oct 12, 2018 (152)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 351784215 (NC_000010.11:50689494:G:A 175/140012)
Row 351784216 (NC_000010.11:50689494:G:T 57263/139940)

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

Submission ignored due to conflicting rows:
Row 351784215 (NC_000010.11:50689494:G:A 175/140012)
Row 351784216 (NC_000010.11:50689494:G:T 57263/139940)

- Apr 26, 2021 (155)
63 HapMap NC_000010.11 - 50689495 Apr 26, 2020 (154)
64 KOREAN population from KRGDB NC_000010.10 - 52449255 Apr 26, 2020 (154)
65 Korean Genome Project

Submission ignored due to conflicting rows:
Row 24236932 (NC_000010.11:50689494:G:T 134/1832)
Row 24236933 (NC_000010.11:50689494:G:A 1/1832)

- Apr 26, 2020 (154)
66 Korean Genome Project

Submission ignored due to conflicting rows:
Row 24236932 (NC_000010.11:50689494:G:T 134/1832)
Row 24236933 (NC_000010.11:50689494:G:A 1/1832)

- Apr 26, 2020 (154)
67 Northern Sweden NC_000010.10 - 52449255 Jul 13, 2019 (153)
68 Qatari NC_000010.10 - 52449255 Apr 26, 2020 (154)
69 SGDP_PRJ NC_000010.10 - 52449255 Apr 26, 2020 (154)
70 Siberian NC_000010.10 - 52449255 Apr 26, 2020 (154)
71 8.3KJPN

Submission ignored due to conflicting rows:
Row 55540143 (NC_000010.10:52449254:G:T 2794/16760)
Row 55540144 (NC_000010.10:52449254:G:A 1/16760)

- Apr 26, 2021 (155)
72 8.3KJPN

Submission ignored due to conflicting rows:
Row 55540143 (NC_000010.10:52449254:G:T 2794/16760)
Row 55540144 (NC_000010.10:52449254:G:A 1/16760)

- Apr 26, 2021 (155)
73 TopMed NC_000010.11 - 50689495 Apr 26, 2021 (155)
74 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 27618466 (NC_000010.10:52449254:G:G 2116/3708, NC_000010.10:52449254:G:T 1592/3708)
Row 27618467 (NC_000010.10:52449254:G:G 3706/3708, NC_000010.10:52449254:G:A 2/3708)

- Oct 12, 2018 (152)
75 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 27618466 (NC_000010.10:52449254:G:G 2116/3708, NC_000010.10:52449254:G:T 1592/3708)
Row 27618467 (NC_000010.10:52449254:G:G 3706/3708, NC_000010.10:52449254:G:A 2/3708)

- Oct 12, 2018 (152)
76 ALFA NC_000010.11 - 50689495 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).

Associated ID History Updated (Build)
rs57196758 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
49759683, 29412258, 26191877, ss561944069, ss1337374976, ss1624534826, ss1667528859, ss2888615608, ss3006449969, ss3874174897, ss3922234864, ss5197570837 NC_000010.10:52449254:G:A NC_000010.11:50689494:G:A (self)
11941667630, ss3119462874, ss3967858932 NC_000010.11:50689494:G:A NC_000010.11:50689494:G:A (self)
ss77214640, ss78108376, ss82253979, ss84586832 NC_000010.8:52119260:G:T NC_000010.11:50689494:G:T (self)
ss88204015, ss210964632, ss280608169, ss286185550, ss290832341 NC_000010.9:52119260:G:T NC_000010.11:50689494:G:T (self)
49759683, 29412258, 10588656, 12870403, 26191877, 6925801, ss224712691, ss235166394, ss241874918, ss561944069, ss656696318, ss1076968932, ss1337374977, ss1426313677, ss1624534825, ss1667528858, ss1806379627, ss1930828473, ss1967121990, ss2154409447, ss2698651313, ss2888615608, ss3006449968, ss3349111682, ss3737303791, ss3748083083, ss3786664748, ss3791845672, ss3796727630, ss3832112596, ss3839592665, ss3874174897, ss3922234864, ss5197570836 NC_000010.10:52449254:G:T NC_000010.11:50689494:G:T (self)
396886, 42358066, 67446290, 11941667630, ss3119462875, ss3649364835, ss3813454311, ss3845064314, ss3967858931, ss4851900635 NC_000010.11:50689494:G:T NC_000010.11:50689494:G:T (self)
ss12953968 NT_008583.15:1000409:G:T NC_000010.11:50689494:G:T (self)
ss15770132, ss19168078 NT_008583.16:1000409:G:T NC_000010.11:50689494:G:T (self)
ss4237992, ss102876710, ss131857725, ss138664254 NT_030059.13:3253718:G:T NC_000010.11:50689494: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 rs3011765

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