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.

rs11806162

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:99550045 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.052322 (13849/264690, TOPMED)
T=0.005774 (920/159334, ALFA)
T=0.050181 (7020/139894, GnomAD) (+ 11 more)
T=0.0511 (256/5008, 1000G)
T=0.0002 (1/4480, Estonian)
T=0.0005 (2/3854, ALSPAC)
T=0.0005 (2/3708, TWINSUK)
T=0.0182 (38/2084, HGDP_Stanford)
T=0.1071 (126/1176, HapMap)
T=0.002 (2/998, GoNL)
T=0.014 (3/216, Qatari)
T=0.00 (0/82, Ancient Sardinia)
C=0.50 (10/20, SGDP_PRJ)
T=0.50 (10/20, SGDP_PRJ)
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 1 NC_000001.11:g.99550045C>A
GRCh38.p13 chr 1 NC_000001.11:g.99550045C>T
GRCh37.p13 chr 1 NC_000001.10:g.100015601C>A
GRCh37.p13 chr 1 NC_000001.10:g.100015601C>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 159334 C=0.994226 A=0.000000, T=0.005774
European Sub 138390 C=0.999299 A=0.000000, T=0.000701
African Sub 6310 C=0.8908 A=0.0000, T=0.1092
African Others Sub 230 C=0.874 A=0.000, T=0.126
African American Sub 6080 C=0.8914 A=0.0000, T=0.1086
Asian Sub 682 C=1.000 A=0.000, T=0.000
East Asian Sub 538 C=1.000 A=0.000, T=0.000
Other Asian Sub 144 C=1.000 A=0.000, T=0.000
Latin American 1 Sub 750 C=0.952 A=0.000, T=0.048
Latin American 2 Sub 2770 C=0.9906 A=0.0000, T=0.0094
South Asian Sub 5012 C=0.9996 A=0.0000, T=0.0004
Other Sub 5420 C=0.9871 A=0.0000, T=0.0129


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=0.947678 T=0.052322
gnomAD - Genomes Global Study-wide 139894 C=0.949819 T=0.050181
gnomAD - Genomes European Sub 75794 C=0.99958 T=0.00042
gnomAD - Genomes African Sub 41866 C=0.83980 T=0.16020
gnomAD - Genomes American Sub 13636 C=0.98658 T=0.01342
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.9958 T=0.0042
gnomAD - Genomes East Asian Sub 3126 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2148 C=0.9609 T=0.0391
1000Genomes Global Study-wide 5008 C=0.9489 T=0.0511
1000Genomes African Sub 1322 C=0.8139 T=0.1861
1000Genomes East Asian Sub 1008 C=0.9990 T=0.0010
1000Genomes Europe Sub 1006 C=0.9970 T=0.0030
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=0.991 T=0.009
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9998 T=0.0002
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9995 T=0.0005
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9995 T=0.0005
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.9818 T=0.0182
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=1.000 T=0.000
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.998 T=0.002
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.986 T=0.014
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=1.000 T=0.000
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.876 T=0.124
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.991 T=0.009
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=1.00 T=0.00
HapMap Global Study-wide 1176 C=0.8929 T=0.1071
HapMap African Sub 692 C=0.844 T=0.156
HapMap American Sub 218 C=0.922 T=0.078
HapMap Europe Sub 176 C=0.994 T=0.006
HapMap Asian Sub 90 C=1.00 T=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.998 T=0.002
Qatari Global Study-wide 216 C=0.986 T=0.014
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 82 C=1.00 T=0.00
SGDP_PRJ Global Study-wide 20 C=0.50 T=0.50
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 T
GRCh38.p13 chr 1 NC_000001.11:g.99550045= NC_000001.11:g.99550045C>A NC_000001.11:g.99550045C>T
GRCh37.p13 chr 1 NC_000001.10:g.100015601= NC_000001.10:g.100015601C>A NC_000001.10:g.100015601C>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#.

69 SubSNP, 13 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17353184 Feb 28, 2004 (120)
2 ABI ss44098915 Mar 14, 2006 (126)
3 ILLUMINA ss66958580 Nov 29, 2006 (127)
4 ILLUMINA ss67122574 Nov 29, 2006 (127)
5 ILLUMINA ss68114077 Dec 12, 2006 (127)
6 ILLUMINA ss70543601 May 24, 2008 (130)
7 ILLUMINA ss71076128 May 16, 2007 (127)
8 ILLUMINA ss74941781 Dec 07, 2007 (129)
9 KRIBB_YJKIM ss85145230 Dec 14, 2007 (130)
10 1000GENOMES ss110890506 Jan 25, 2009 (130)
11 ILLUMINA-UK ss118918966 Feb 15, 2009 (130)
12 ILLUMINA ss153067435 Dec 01, 2009 (131)
13 ILLUMINA ss159190828 Dec 01, 2009 (131)
14 ILLUMINA ss160006240 Dec 01, 2009 (131)
15 ENSEMBL ss161288706 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss163738467 Jul 04, 2010 (132)
17 ILLUMINA ss171596851 Jul 04, 2010 (132)
18 BUSHMAN ss198832349 Jul 04, 2010 (132)
19 1000GENOMES ss218548495 Jul 14, 2010 (132)
20 ILLUMINA ss479600323 May 04, 2012 (137)
21 ILLUMINA ss479605093 May 04, 2012 (137)
22 ILLUMINA ss480090701 Sep 08, 2015 (146)
23 ILLUMINA ss484598889 May 04, 2012 (137)
24 ILLUMINA ss536726004 Sep 08, 2015 (146)
25 TISHKOFF ss554480282 Apr 25, 2013 (138)
26 ILLUMINA ss778766831 Sep 08, 2015 (146)
27 ILLUMINA ss782746266 Sep 08, 2015 (146)
28 ILLUMINA ss783713092 Sep 08, 2015 (146)
29 ILLUMINA ss831998296 Sep 08, 2015 (146)
30 ILLUMINA ss832703308 Jul 12, 2019 (153)
31 ILLUMINA ss834226640 Sep 08, 2015 (146)
32 EVA-GONL ss975482737 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1068127488 Aug 21, 2014 (142)
34 1000GENOMES ss1292106738 Aug 21, 2014 (142)
35 EVA_DECODE ss1584861017 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1600816392 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1643810425 Apr 01, 2015 (144)
38 ILLUMINA ss1751859100 Sep 08, 2015 (146)
39 HAMMER_LAB ss1794807365 Sep 08, 2015 (146)
40 WEILL_CORNELL_DGM ss1918682361 Feb 12, 2016 (147)
41 HUMAN_LONGEVITY ss2165029212 Dec 20, 2016 (150)
42 TOPMED ss2327380008 Dec 20, 2016 (150)
43 ILLUMINA ss2632553598 Nov 08, 2017 (151)
44 GNOMAD ss2758635258 Nov 08, 2017 (151)
45 TOPMED ss3084644175 Nov 08, 2017 (151)
46 ILLUMINA ss3626165241 Oct 11, 2018 (152)
47 ILLUMINA ss3630587772 Oct 11, 2018 (152)
48 ILLUMINA ss3632903272 Oct 11, 2018 (152)
49 ILLUMINA ss3633598270 Oct 11, 2018 (152)
50 ILLUMINA ss3634339244 Oct 11, 2018 (152)
51 ILLUMINA ss3635291882 Oct 11, 2018 (152)
52 ILLUMINA ss3636016798 Oct 11, 2018 (152)
53 ILLUMINA ss3637042337 Oct 11, 2018 (152)
54 ILLUMINA ss3637775438 Oct 11, 2018 (152)
55 ILLUMINA ss3638905823 Oct 11, 2018 (152)
56 ILLUMINA ss3639765060 Oct 11, 2018 (152)
57 ILLUMINA ss3640046604 Oct 11, 2018 (152)
58 ILLUMINA ss3642785624 Oct 11, 2018 (152)
59 ILLUMINA ss3643818610 Oct 11, 2018 (152)
60 EGCUT_WGS ss3655390390 Jul 12, 2019 (153)
61 EVA_DECODE ss3687366670 Jul 12, 2019 (153)
62 ILLUMINA ss3744640213 Jul 12, 2019 (153)
63 ILLUMINA ss3772141450 Jul 12, 2019 (153)
64 KHV_HUMAN_GENOMES ss3799574591 Jul 12, 2019 (153)
65 HGDP ss3847343730 Apr 25, 2020 (154)
66 SGDP_PRJ ss3849477099 Apr 25, 2020 (154)
67 EVA ss3984814950 Apr 25, 2021 (155)
68 EVA ss4016927679 Apr 25, 2021 (155)
69 TOPMED ss4460689797 Apr 25, 2021 (155)
70 1000Genomes NC_000001.10 - 100015601 Oct 11, 2018 (152)
71 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 100015601 Oct 11, 2018 (152)
72 Genetic variation in the Estonian population NC_000001.10 - 100015601 Oct 11, 2018 (152)
73 gnomAD - Genomes NC_000001.11 - 99550045 Apr 25, 2021 (155)
74 Genome of the Netherlands Release 5 NC_000001.10 - 100015601 Apr 25, 2020 (154)
75 HGDP-CEPH-db Supplement 1 NC_000001.9 - 99788189 Apr 25, 2020 (154)
76 HapMap NC_000001.11 - 99550045 Apr 25, 2020 (154)
77 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 100015601 Apr 25, 2021 (155)
78 Qatari NC_000001.10 - 100015601 Apr 25, 2020 (154)
79 SGDP_PRJ NC_000001.10 - 100015601 Apr 25, 2020 (154)
80 TopMed NC_000001.11 - 99550045 Apr 25, 2021 (155)
81 UK 10K study - Twins NC_000001.10 - 100015601 Oct 11, 2018 (152)
82 ALFA NC_000001.11 - 99550045 Apr 25, 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)
rs57653120 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
10401608085 NC_000001.11:99550044:C:A NC_000001.11:99550044:C:A
ss3638905823, ss3639765060, ss3643818610 NC_000001.8:99727621:C:T NC_000001.11:99550044:C:T (self)
21622, ss110890506, ss118918966, ss163738467, ss198832349, ss479600323, ss1584861017, ss3642785624, ss3847343730 NC_000001.9:99788188:C:T NC_000001.11:99550044:C:T (self)
2870276, 1583280, 1128638, 686837, 40877, 724291, 1494079, 1583280, ss218548495, ss479605093, ss480090701, ss484598889, ss536726004, ss554480282, ss778766831, ss782746266, ss783713092, ss831998296, ss832703308, ss834226640, ss975482737, ss1068127488, ss1292106738, ss1600816392, ss1643810425, ss1751859100, ss1794807365, ss1918682361, ss2327380008, ss2632553598, ss2758635258, ss3626165241, ss3630587772, ss3632903272, ss3633598270, ss3634339244, ss3635291882, ss3636016798, ss3637042337, ss3637775438, ss3640046604, ss3655390390, ss3744640213, ss3772141450, ss3849477099, ss3984814950, ss4016927679 NC_000001.10:100015600:C:T NC_000001.11:99550044:C:T (self)
20290607, 136483, 15302296, 24296132, 10401608085, ss2165029212, ss3084644175, ss3687366670, ss3799574591, ss4460689797 NC_000001.11:99550044:C:T NC_000001.11:99550044:C:T (self)
ss17353184 NT_028050.13:8204544:C:T NC_000001.11:99550044:C:T (self)
ss44098915, ss66958580, ss67122574, ss68114077, ss70543601, ss71076128, ss74941781, ss85145230, ss153067435, ss159190828, ss160006240, ss161288706, ss171596851 NT_032977.9:69987518:C:T NC_000001.11:99550044: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 rs11806162

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