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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.

rs11817774

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:6265943 (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>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.420756 (111370/264690, TOPMED)
T=0.411335 (57331/139378, GnomAD)
T=0.38061 (6806/17882, ALFA) (+ 15 more)
A=0.37345 (6259/16760, 8.3KJPN)
T=0.4776 (2392/5008, 1000G)
T=0.3433 (1536/4474, Estonian)
T=0.3233 (1246/3854, ALSPAC)
T=0.3366 (1248/3708, TWINSUK)
A=0.3614 (1059/2930, KOREAN)
A=0.3859 (707/1832, Korea1K)
T=0.310 (309/998, GoNL)
T=0.310 (186/600, NorthernSweden)
T=0.306 (136/444, SGDP_PRJ)
T=0.466 (151/324, HapMap)
T=0.352 (76/216, Qatari)
A=0.387 (82/212, Vietnamese)
T=0.26 (12/46, Siberian)
T=0.30 (12/40, GENOME_DK)
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.6265943T>A
GRCh38.p13 chr 10 NC_000010.11:g.6265943T>C
GRCh37.p13 chr 10 NC_000010.10:g.6307906T>A
GRCh37.p13 chr 10 NC_000010.10:g.6307906T>C
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 17882 T=0.38061 A=0.61939, C=0.00000
European Sub 13696 T=0.34302 A=0.65698, C=0.00000
African Sub 2532 T=0.5344 A=0.4656, C=0.0000
African Others Sub 96 T=0.53 A=0.47, C=0.00
African American Sub 2436 T=0.5345 A=0.4655, C=0.0000
Asian Sub 112 T=0.732 A=0.268, C=0.000
East Asian Sub 86 T=0.73 A=0.27, C=0.00
Other Asian Sub 26 T=0.73 A=0.27, C=0.00
Latin American 1 Sub 146 T=0.452 A=0.548, C=0.000
Latin American 2 Sub 610 T=0.477 A=0.523, C=0.000
South Asian Sub 98 T=0.43 A=0.57, C=0.00
Other Sub 688 T=0.398 A=0.602, C=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
TopMed Global Study-wide 264690 T=0.420756 A=0.579244
gnomAD - Genomes Global Study-wide 139378 T=0.411335 A=0.588665
gnomAD - Genomes European Sub 75612 T=0.34454 A=0.65546
gnomAD - Genomes African Sub 41626 T=0.51377 A=0.48623
gnomAD - Genomes American Sub 13564 T=0.41758 A=0.58242
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=0.4234 A=0.5766
gnomAD - Genomes East Asian Sub 3122 T=0.6009 A=0.3991
gnomAD - Genomes Other Sub 2136 T=0.4443 A=0.5557
8.3KJPN JAPANESE Study-wide 16760 T=0.62655 A=0.37345
1000Genomes Global Study-wide 5008 T=0.4776 A=0.5224
1000Genomes African Sub 1322 T=0.5499 A=0.4501
1000Genomes East Asian Sub 1008 T=0.6121 A=0.3879
1000Genomes Europe Sub 1006 T=0.3579 A=0.6421
1000Genomes South Asian Sub 978 T=0.391 A=0.609
1000Genomes American Sub 694 T=0.441 A=0.559
Genetic variation in the Estonian population Estonian Study-wide 4474 T=0.3433 A=0.6567
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.3233 A=0.6767
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.3366 A=0.6634
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6386 A=0.3614
Korean Genome Project KOREAN Study-wide 1832 T=0.6141 A=0.3859
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.310 A=0.690
Northern Sweden ACPOP Study-wide 600 T=0.310 A=0.690
SGDP_PRJ Global Study-wide 444 T=0.306 A=0.694
HapMap Global Study-wide 324 T=0.466 A=0.534
HapMap American Sub 120 T=0.267 A=0.733
HapMap African Sub 118 T=0.602 A=0.398
HapMap Asian Sub 86 T=0.56 A=0.44
Qatari Global Study-wide 216 T=0.352 A=0.648
A Vietnamese Genetic Variation Database Global Study-wide 212 T=0.613 A=0.387
Siberian Global Study-wide 46 T=0.26 A=0.74
The Danish reference pan genome Danish Study-wide 40 T=0.30 A=0.70
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= A C
GRCh38.p13 chr 10 NC_000010.11:g.6265943= NC_000010.11:g.6265943T>A NC_000010.11:g.6265943T>C
GRCh37.p13 chr 10 NC_000010.10:g.6307906= NC_000010.10:g.6307906T>A NC_000010.10:g.6307906T>C
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#.

61 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17403147 Feb 28, 2004 (120)
2 ABI ss39782443 Mar 15, 2006 (126)
3 BCMHGSC_JDW ss88080913 Mar 23, 2008 (129)
4 BGI ss102850377 Dec 01, 2009 (131)
5 1000GENOMES ss109197409 Jan 23, 2009 (130)
6 ILLUMINA-UK ss119003882 Dec 01, 2009 (131)
7 ENSEMBL ss131661811 Dec 01, 2009 (131)
8 GMI ss154522717 Dec 01, 2009 (131)
9 ENSEMBL ss161352536 Dec 01, 2009 (131)
10 COMPLETE_GENOMICS ss167743076 Jul 04, 2010 (132)
11 COMPLETE_GENOMICS ss170369263 Jul 04, 2010 (132)
12 BUSHMAN ss201097455 Jul 04, 2010 (132)
13 BCM-HGSC-SUB ss207057320 Jul 04, 2010 (132)
14 1000GENOMES ss224544528 Jul 14, 2010 (132)
15 1000GENOMES ss235038061 Jul 15, 2010 (132)
16 1000GENOMES ss241773876 Jul 15, 2010 (132)
17 BL ss254025777 May 09, 2011 (134)
18 GMI ss280464745 May 04, 2012 (137)
19 GMI ss286122475 Apr 25, 2013 (138)
20 PJP ss290900155 May 09, 2011 (134)
21 TISHKOFF ss561745385 Apr 25, 2013 (138)
22 SSMP ss656251611 Apr 25, 2013 (138)
23 EVA-GONL ss987157282 Aug 21, 2014 (142)
24 JMKIDD_LAB ss1076731682 Aug 21, 2014 (142)
25 1000GENOMES ss1336130012 Aug 21, 2014 (142)
26 DDI ss1426208828 Apr 01, 2015 (144)
27 EVA_GENOME_DK ss1574889234 Apr 01, 2015 (144)
28 EVA_DECODE ss1596805240 Apr 01, 2015 (144)
29 EVA_UK10K_ALSPAC ss1623911711 Apr 01, 2015 (144)
30 EVA_UK10K_TWINSUK ss1666905744 Apr 01, 2015 (144)
31 HAMMER_LAB ss1806238286 Sep 08, 2015 (146)
32 WEILL_CORNELL_DGM ss1930478208 Feb 12, 2016 (147)
33 GENOMED ss1967049536 Jul 19, 2016 (147)
34 JJLAB ss2025962230 Sep 14, 2016 (149)
35 USC_VALOUEV ss2154204271 Dec 20, 2016 (150)
36 HUMAN_LONGEVITY ss2172358251 Dec 20, 2016 (150)
37 TOPMED ss2335067381 Dec 20, 2016 (150)
38 SYSTEMSBIOZJU ss2627450018 Nov 08, 2017 (151)
39 GRF ss2698428177 Nov 08, 2017 (151)
40 GNOMAD ss2885104884 Nov 08, 2017 (151)
41 SWEGEN ss3005875581 Nov 08, 2017 (151)
42 BIOINF_KMB_FNS_UNIBA ss3026764632 Nov 08, 2017 (151)
43 TOPMED ss3110663376 Nov 08, 2017 (151)
44 TOPMED ss3110663377 Nov 08, 2017 (151)
45 CSHL ss3348941934 Nov 08, 2017 (151)
46 EGCUT_WGS ss3673402683 Jul 13, 2019 (153)
47 EVA_DECODE ss3689206501 Jul 13, 2019 (153)
48 ACPOP ss3737026893 Jul 13, 2019 (153)
49 EVA ss3747699611 Jul 13, 2019 (153)
50 PACBIO ss3786570187 Jul 13, 2019 (153)
51 PACBIO ss3791764078 Jul 13, 2019 (153)
52 PACBIO ss3796645858 Jul 13, 2019 (153)
53 KHV_HUMAN_GENOMES ss3813062597 Jul 13, 2019 (153)
54 EVA ss3831947009 Apr 26, 2020 (154)
55 EVA ss3839504338 Apr 26, 2020 (154)
56 EVA ss3844970320 Apr 26, 2020 (154)
57 SGDP_PRJ ss3873453437 Apr 26, 2020 (154)
58 KRGDB ss3921388889 Apr 26, 2020 (154)
59 KOGIC ss3967131301 Apr 26, 2020 (154)
60 TOPMED ss4841242115 Apr 26, 2021 (155)
61 TOMMO_GENOMICS ss5196096709 Apr 26, 2021 (155)
62 1000Genomes NC_000010.10 - 6307906 Oct 12, 2018 (152)
63 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 6307906 Oct 12, 2018 (152)
64 Genetic variation in the Estonian population NC_000010.10 - 6307906 Oct 12, 2018 (152)
65 The Danish reference pan genome NC_000010.10 - 6307906 Apr 26, 2020 (154)
66 gnomAD - Genomes NC_000010.11 - 6265943 Apr 26, 2021 (155)
67 Genome of the Netherlands Release 5 NC_000010.10 - 6307906 Apr 26, 2020 (154)
68 HapMap NC_000010.11 - 6265943 Apr 26, 2020 (154)
69 KOREAN population from KRGDB NC_000010.10 - 6307906 Apr 26, 2020 (154)
70 Korean Genome Project NC_000010.11 - 6265943 Apr 26, 2020 (154)
71 Northern Sweden NC_000010.10 - 6307906 Jul 13, 2019 (153)
72 Qatari NC_000010.10 - 6307906 Apr 26, 2020 (154)
73 SGDP_PRJ NC_000010.10 - 6307906 Apr 26, 2020 (154)
74 Siberian NC_000010.10 - 6307906 Apr 26, 2020 (154)
75 8.3KJPN NC_000010.10 - 6307906 Apr 26, 2021 (155)
76 TopMed NC_000010.11 - 6265943 Apr 26, 2021 (155)
77 UK 10K study - Twins NC_000010.10 - 6307906 Oct 12, 2018 (152)
78 A Vietnamese Genetic Variation Database NC_000010.10 - 6307906 Jul 13, 2019 (153)
79 ALFA NC_000010.11 - 6265943 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
ss88080913, ss109197409, ss119003882, ss167743076, ss170369263, ss201097455, ss207057320, ss254025777, ss280464745, ss286122475, ss290900155, ss1596805240 NC_000010.9:6347911:T:A NC_000010.11:6265942:T:A (self)
48471318, 26932108, 19140931, 2014438, 12012171, 28566283, 10311758, 12520138, 25470417, 6720625, 54066016, 26932108, 5978562, ss224544528, ss235038061, ss241773876, ss561745385, ss656251611, ss987157282, ss1076731682, ss1336130012, ss1426208828, ss1574889234, ss1623911711, ss1666905744, ss1806238286, ss1930478208, ss1967049536, ss2025962230, ss2154204271, ss2335067381, ss2627450018, ss2698428177, ss2885104884, ss3005875581, ss3348941934, ss3673402683, ss3737026893, ss3747699611, ss3786570187, ss3791764078, ss3796645858, ss3831947009, ss3839504338, ss3873453437, ss3921388889, ss5196096709 NC_000010.10:6307905:T:A NC_000010.11:6265942:T:A (self)
342415079, 330055, 23509302, 35683232, 56787770, 13034013617, ss2172358251, ss3026764632, ss3110663376, ss3689206501, ss3813062597, ss3844970320, ss3967131301, ss4841242115 NC_000010.11:6265942:T:A NC_000010.11:6265942:T:A (self)
ss39782443, ss102850377, ss131661811, ss154522717, ss161352536 NT_008705.16:6247905:T:A NC_000010.11:6265942:T:A (self)
ss17403147 NT_077569.2:670801:T:A NC_000010.11:6265942:T:A (self)
13034013617, ss3110663377 NC_000010.11:6265942:T:C NC_000010.11:6265942:T:C (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 rs11817774

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