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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.

rs11816471

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr10:6266005 (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
C>A / C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.420522 (111308/264690, TOPMED)
A=0.37369 (6263/16760, 8.3KJPN)
C=0.4794 (4252/8870, ALFA) (+ 12 more)
C=0.4776 (2392/5008, 1000G)
C=0.3411 (1528/4480, Estonian)
C=0.3233 (1246/3854, ALSPAC)
C=0.3366 (1248/3708, TWINSUK)
A=0.3621 (1061/2930, KOREAN)
A=0.3876 (710/1832, Korea1K)
C=0.311 (310/998, GoNL)
C=0.310 (186/600, NorthernSweden)
C=0.306 (136/444, SGDP_PRJ)
C=0.352 (76/216, Qatari)
C=0.26 (12/46, Siberian)
C=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.6266005C>A
GRCh38.p13 chr 10 NC_000010.11:g.6266005C>G
GRCh38.p13 chr 10 NC_000010.11:g.6266005C>T
GRCh37.p13 chr 10 NC_000010.10:g.6307968C>A
GRCh37.p13 chr 10 NC_000010.10:g.6307968C>G
GRCh37.p13 chr 10 NC_000010.10:g.6307968C>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 8870 C=0.4794 A=0.5206, G=0.0000, T=0.0000
European Sub 7522 C=0.4140 A=0.5860, G=0.0000, T=0.0000
African Sub 818 C=0.913 A=0.087, G=0.000, T=0.000
African Others Sub 38 C=0.89 A=0.11, G=0.00, T=0.00
African American Sub 780 C=0.914 A=0.086, G=0.000, T=0.000
Asian Sub 64 C=0.98 A=0.02, G=0.00, T=0.00
East Asian Sub 48 C=0.98 A=0.02, G=0.00, T=0.00
Other Asian Sub 16 C=1.00 A=0.00, G=0.00, T=0.00
Latin American 1 Sub 30 C=1.00 A=0.00, G=0.00, T=0.00
Latin American 2 Sub 122 C=1.000 A=0.000, G=0.000, T=0.000
South Asian Sub 26 C=0.88 A=0.12, G=0.00, T=0.00
Other Sub 288 C=0.531 A=0.469, G=0.000, T=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 C=0.420522 A=0.579478
8.3KJPN JAPANESE Study-wide 16760 C=0.62631 A=0.37369
1000Genomes Global Study-wide 5008 C=0.4776 A=0.5224
1000Genomes African Sub 1322 C=0.5499 A=0.4501
1000Genomes East Asian Sub 1008 C=0.6121 A=0.3879
1000Genomes Europe Sub 1006 C=0.3579 A=0.6421
1000Genomes South Asian Sub 978 C=0.391 A=0.609
1000Genomes American Sub 694 C=0.441 A=0.559
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.3411 A=0.6589
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.3233 A=0.6767
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.3366 A=0.6634
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.6379 A=0.3621
Korean Genome Project KOREAN Study-wide 1832 C=0.6124 A=0.3876
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.311 A=0.689
Northern Sweden ACPOP Study-wide 600 C=0.310 A=0.690
SGDP_PRJ Global Study-wide 444 C=0.306 A=0.694
Qatari Global Study-wide 216 C=0.352 A=0.648
Siberian Global Study-wide 46 C=0.26 A=0.74
The Danish reference pan genome Danish Study-wide 40 C=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 C= A G T
GRCh38.p13 chr 10 NC_000010.11:g.6266005= NC_000010.11:g.6266005C>A NC_000010.11:g.6266005C>G NC_000010.11:g.6266005C>T
GRCh37.p13 chr 10 NC_000010.10:g.6307968= NC_000010.10:g.6307968C>A NC_000010.10:g.6307968C>G NC_000010.10:g.6307968C>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, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17397766 Feb 28, 2004 (120)
2 ABI ss39704223 Mar 14, 2006 (126)
3 BCMHGSC_JDW ss88080916 Mar 23, 2008 (129)
4 ENSEMBL ss131661814 Dec 01, 2009 (131)
5 GMI ss154522726 Dec 01, 2009 (131)
6 ENSEMBL ss161352538 Dec 01, 2009 (131)
7 COMPLETE_GENOMICS ss167743087 Jul 04, 2010 (132)
8 COMPLETE_GENOMICS ss170369281 Jul 04, 2010 (132)
9 BUSHMAN ss201097459 Jul 04, 2010 (132)
10 BCM-HGSC-SUB ss207418620 Jul 04, 2010 (132)
11 1000GENOMES ss235038062 Jul 15, 2010 (132)
12 1000GENOMES ss241773877 Jul 15, 2010 (132)
13 BL ss254025782 May 09, 2011 (134)
14 GMI ss280464746 May 04, 2012 (137)
15 GMI ss286122476 Apr 25, 2013 (138)
16 PJP ss290900156 May 09, 2011 (134)
17 TISHKOFF ss561745386 Apr 25, 2013 (138)
18 SSMP ss656251612 Apr 25, 2013 (138)
19 EVA-GONL ss987157284 Aug 21, 2014 (142)
20 JMKIDD_LAB ss1076731683 Aug 21, 2014 (142)
21 1000GENOMES ss1336130014 Aug 21, 2014 (142)
22 DDI ss1426208829 Apr 01, 2015 (144)
23 EVA_GENOME_DK ss1574889235 Apr 01, 2015 (144)
24 EVA_DECODE ss1596805241 Apr 01, 2015 (144)
25 EVA_UK10K_ALSPAC ss1623911712 Apr 01, 2015 (144)
26 EVA_UK10K_TWINSUK ss1666905745 Apr 01, 2015 (144)
27 HAMMER_LAB ss1806238287 Sep 08, 2015 (146)
28 WEILL_CORNELL_DGM ss1930478209 Feb 12, 2016 (147)
29 GENOMED ss1967049537 Jul 19, 2016 (147)
30 JJLAB ss2025962232 Sep 14, 2016 (149)
31 USC_VALOUEV ss2154204272 Dec 20, 2016 (150)
32 HUMAN_LONGEVITY ss2172358254 Dec 20, 2016 (150)
33 TOPMED ss2335067386 Dec 20, 2016 (150)
34 SYSTEMSBIOZJU ss2627450019 Nov 08, 2017 (151)
35 GRF ss2698428178 Nov 08, 2017 (151)
36 GNOMAD ss2885104888 Nov 08, 2017 (151)
37 SWEGEN ss3005875582 Nov 08, 2017 (151)
38 BIOINF_KMB_FNS_UNIBA ss3026764633 Nov 08, 2017 (151)
39 TOPMED ss3110663387 Nov 08, 2017 (151)
40 TOPMED ss3110663388 Nov 08, 2017 (151)
41 TOPMED ss3110663389 Nov 08, 2017 (151)
42 EGCUT_WGS ss3673402684 Jul 13, 2019 (153)
43 EVA_DECODE ss3689206502 Jul 13, 2019 (153)
44 ACPOP ss3737026895 Jul 13, 2019 (153)
45 EVA ss3747699612 Jul 13, 2019 (153)
46 PACBIO ss3786570188 Jul 13, 2019 (153)
47 PACBIO ss3791764079 Jul 13, 2019 (153)
48 PACBIO ss3796645859 Jul 13, 2019 (153)
49 KHV_HUMAN_GENOMES ss3813062598 Jul 13, 2019 (153)
50 EVA ss3831947010 Apr 26, 2020 (154)
51 EVA ss3839504339 Apr 26, 2020 (154)
52 EVA ss3844970321 Apr 26, 2020 (154)
53 SGDP_PRJ ss3873453438 Apr 26, 2020 (154)
54 KRGDB ss3921388890 Apr 26, 2020 (154)
55 KOGIC ss3967131302 Apr 26, 2020 (154)
56 TOPMED ss4841242128 Apr 26, 2021 (155)
57 TOMMO_GENOMICS ss5196096711 Apr 26, 2021 (155)
58 1000Genomes NC_000010.10 - 6307968 Oct 12, 2018 (152)
59 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 6307968 Oct 12, 2018 (152)
60 Genetic variation in the Estonian population NC_000010.10 - 6307968 Oct 12, 2018 (152)
61 The Danish reference pan genome NC_000010.10 - 6307968 Apr 26, 2020 (154)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 342415087 (NC_000010.11:6266004:C:A 82219/139586)
Row 342415088 (NC_000010.11:6266004:C:T 29/139698)

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

Submission ignored due to conflicting rows:
Row 342415087 (NC_000010.11:6266004:C:A 82219/139586)
Row 342415088 (NC_000010.11:6266004:C:T 29/139698)

- Apr 26, 2021 (155)
64 Genome of the Netherlands Release 5 NC_000010.10 - 6307968 Apr 26, 2020 (154)
65 KOREAN population from KRGDB NC_000010.10 - 6307968 Apr 26, 2020 (154)
66 Korean Genome Project NC_000010.11 - 6266005 Apr 26, 2020 (154)
67 Northern Sweden NC_000010.10 - 6307968 Jul 13, 2019 (153)
68 Qatari NC_000010.10 - 6307968 Apr 26, 2020 (154)
69 SGDP_PRJ NC_000010.10 - 6307968 Apr 26, 2020 (154)
70 Siberian NC_000010.10 - 6307968 Apr 26, 2020 (154)
71 8.3KJPN NC_000010.10 - 6307968 Apr 26, 2021 (155)
72 TopMed NC_000010.11 - 6266005 Apr 26, 2021 (155)
73 UK 10K study - Twins NC_000010.10 - 6307968 Oct 12, 2018 (152)
74 ALFA NC_000010.11 - 6266005 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
ss88080916, ss167743087, ss170369281, ss201097459, ss207418620, ss254025782, ss280464746, ss286122476, ss290900156, ss1596805241 NC_000010.9:6347973:C:A NC_000010.11:6266004:C:A (self)
48471320, 26932109, 19140932, 2014439, 12012173, 28566284, 10311760, 12520139, 25470418, 6720626, 54066018, 26932109, ss235038062, ss241773877, ss561745386, ss656251612, ss987157284, ss1076731683, ss1336130014, ss1426208829, ss1574889235, ss1623911712, ss1666905745, ss1806238287, ss1930478209, ss1967049537, ss2025962232, ss2154204272, ss2335067386, ss2627450019, ss2698428178, ss2885104888, ss3005875582, ss3673402684, ss3737026895, ss3747699612, ss3786570188, ss3791764079, ss3796645859, ss3831947010, ss3839504339, ss3873453438, ss3921388890, ss5196096711 NC_000010.10:6307967:C:A NC_000010.11:6266004:C:A (self)
23509303, 35683240, 56787783, 6598585418, ss2172358254, ss3026764633, ss3110663387, ss3689206502, ss3813062598, ss3844970321, ss3967131302, ss4841242128 NC_000010.11:6266004:C:A NC_000010.11:6266004:C:A (self)
ss39704223, ss131661814, ss154522726, ss161352538 NT_008705.16:6247967:C:A NC_000010.11:6266004:C:A (self)
ss17397766 NT_077569.2:670863:C:A NC_000010.11:6266004:C:A (self)
6598585418, ss3110663388 NC_000010.11:6266004:C:G NC_000010.11:6266004:C:G (self)
ss2885104888 NC_000010.10:6307967:C:T NC_000010.11:6266004:C:T (self)
6598585418, ss3110663389 NC_000010.11:6266004:C:T NC_000010.11:6266004:C: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 rs11816471

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