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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.

rs17160669

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:1370181 (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
T=0.227387 (60187/264690, TOPMED)
T=0.143063 (35022/244802, ALFA)
T=0.196726 (27546/140022, GnomAD) (+ 17 more)
T=0.35753 (28136/78696, PAGE_STUDY)
C=0.19863 (3329/16760, 8.3KJPN)
T=0.4105 (2056/5008, 1000G)
T=0.1208 (541/4480, Estonian)
T=0.1269 (489/3854, ALSPAC)
T=0.1265 (469/3708, TWINSUK)
C=0.2083 (610/2928, KOREAN)
T=0.3827 (724/1892, HapMap)
C=0.2025 (371/1832, Korea1K)
T=0.107 (107/998, GoNL)
C=0.205 (156/762, PRJEB37584)
T=0.120 (72/600, NorthernSweden)
C=0.262 (95/362, SGDP_PRJ)
T=0.171 (37/216, Qatari)
C=0.155 (32/206, Vietnamese)
T=0.03 (1/40, GENOME_DK)
C=0.39 (11/28, 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 1 NC_000001.11:g.1370181C>A
GRCh38.p13 chr 1 NC_000001.11:g.1370181C>G
GRCh38.p13 chr 1 NC_000001.11:g.1370181C>T
GRCh37.p13 chr 1 NC_000001.10:g.1305561C>A
GRCh37.p13 chr 1 NC_000001.10:g.1305561C>G
GRCh37.p13 chr 1 NC_000001.10:g.1305561C>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 244802 C=0.856937 T=0.143063
European Sub 218252 C=0.883941 T=0.116059
African Sub 6372 C=0.7513 T=0.2487
African Others Sub 262 C=0.744 T=0.256
African American Sub 6110 C=0.7516 T=0.2484
Asian Sub 3856 C=0.2158 T=0.7842
East Asian Sub 3126 C=0.1948 T=0.8052
Other Asian Sub 730 C=0.305 T=0.695
Latin American 1 Sub 1030 C=0.7913 T=0.2087
Latin American 2 Sub 6548 C=0.5735 T=0.4265
South Asian Sub 366 C=0.530 T=0.470
Other Sub 8378 C=0.7729 T=0.2271


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=0.772613 T=0.227387
gnomAD - Genomes Global Study-wide 140022 C=0.803274 T=0.196726
gnomAD - Genomes European Sub 75882 C=0.87923 T=0.12077
gnomAD - Genomes African Sub 41922 C=0.75586 T=0.24414
gnomAD - Genomes American Sub 13618 C=0.64569 T=0.35431
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.8956 T=0.1044
gnomAD - Genomes East Asian Sub 3126 C=0.2022 T=0.7978
gnomAD - Genomes Other Sub 2150 C=0.7763 T=0.2237
The PAGE Study Global Study-wide 78696 C=0.64247 T=0.35753
The PAGE Study AfricanAmerican Sub 32512 C=0.75354 T=0.24646
The PAGE Study Mexican Sub 10810 C=0.59630 T=0.40370
The PAGE Study Asian Sub 8318 C=0.2004 T=0.7996
The PAGE Study PuertoRican Sub 7918 C=0.7579 T=0.2421
The PAGE Study NativeHawaiian Sub 4534 C=0.3747 T=0.6253
The PAGE Study Cuban Sub 4228 C=0.8309 T=0.1691
The PAGE Study Dominican Sub 3828 C=0.7790 T=0.2210
The PAGE Study CentralAmerican Sub 2450 C=0.5433 T=0.4567
The PAGE Study SouthAmerican Sub 1982 C=0.5358 T=0.4642
The PAGE Study NativeAmerican Sub 1260 C=0.7444 T=0.2556
The PAGE Study SouthAsian Sub 856 C=0.493 T=0.507
8.3KJPN JAPANESE Study-wide 16760 C=0.19863 T=0.80137
1000Genomes Global Study-wide 5008 C=0.5895 T=0.4105
1000Genomes African Sub 1322 C=0.7300 T=0.2700
1000Genomes East Asian Sub 1008 C=0.1835 T=0.8165
1000Genomes Europe Sub 1006 C=0.8926 T=0.1074
1000Genomes South Asian Sub 978 C=0.504 T=0.496
1000Genomes American Sub 694 C=0.592 T=0.408
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8792 T=0.1208
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8731 T=0.1269
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8735 T=0.1265
KOREAN population from KRGDB KOREAN Study-wide 2928 C=0.2083 A=0.0000, G=0.0000, T=0.7917
HapMap Global Study-wide 1892 C=0.6173 T=0.3827
HapMap American Sub 770 C=0.627 T=0.373
HapMap African Sub 692 C=0.682 T=0.318
HapMap Asian Sub 254 C=0.205 T=0.795
HapMap Europe Sub 176 C=0.915 T=0.085
Korean Genome Project KOREAN Study-wide 1832 C=0.2025 T=0.7975
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.893 T=0.107
CNV burdens in cranial meningiomas Global Study-wide 762 C=0.205 T=0.795
CNV burdens in cranial meningiomas CRM Sub 762 C=0.205 T=0.795
Northern Sweden ACPOP Study-wide 600 C=0.880 T=0.120
SGDP_PRJ Global Study-wide 362 C=0.262 T=0.738
Qatari Global Study-wide 216 C=0.829 T=0.171
A Vietnamese Genetic Variation Database Global Study-wide 206 C=0.155 T=0.845
The Danish reference pan genome Danish Study-wide 40 C=0.97 T=0.03
Siberian Global Study-wide 28 C=0.39 T=0.61
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 1 NC_000001.11:g.1370181= NC_000001.11:g.1370181C>A NC_000001.11:g.1370181C>G NC_000001.11:g.1370181C>T
GRCh37.p13 chr 1 NC_000001.10:g.1305561= NC_000001.10:g.1305561C>A NC_000001.10:g.1305561C>G NC_000001.10:g.1305561C>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#.

91 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 PERLEGEN ss23148415 Sep 20, 2004 (123)
2 PERLEGEN ss68756333 May 17, 2007 (130)
3 ILLUMINA ss75318330 Dec 07, 2007 (129)
4 BGI ss105112450 Dec 01, 2009 (131)
5 KRIBB_YJKIM ss119879776 Dec 01, 2009 (131)
6 ILLUMINA ss123264328 Dec 01, 2009 (131)
7 ILLUMINA ss153643701 Dec 01, 2009 (131)
8 GMI ss154530620 Dec 01, 2009 (131)
9 ILLUMINA ss160431902 Dec 01, 2009 (131)
10 ILLUMINA ss170758182 Jul 04, 2010 (132)
11 ILLUMINA ss172771977 Jul 04, 2010 (132)
12 BCM-HGSC-SUB ss205270491 Jul 04, 2010 (132)
13 ILLUMINA ss244282910 Jul 04, 2010 (132)
14 GMI ss275683142 May 04, 2012 (137)
15 GMI ss283988318 Apr 25, 2013 (138)
16 1000GENOMES ss328361161 May 09, 2011 (134)
17 ILLUMINA ss480204545 May 04, 2012 (137)
18 ILLUMINA ss480214998 May 04, 2012 (137)
19 ILLUMINA ss480943906 Sep 08, 2015 (146)
20 ILLUMINA ss484900371 May 04, 2012 (137)
21 ILLUMINA ss536955265 Sep 08, 2015 (146)
22 TISHKOFF ss553716776 Apr 25, 2013 (138)
23 SSMP ss647520127 Apr 25, 2013 (138)
24 ILLUMINA ss778457203 Sep 08, 2015 (146)
25 ILLUMINA ss782896489 Sep 08, 2015 (146)
26 ILLUMINA ss783859916 Sep 08, 2015 (146)
27 ILLUMINA ss825658802 Apr 01, 2015 (144)
28 ILLUMINA ss832151192 Sep 08, 2015 (146)
29 ILLUMINA ss833912870 Sep 08, 2015 (146)
30 EVA-GONL ss974774467 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1067614955 Aug 21, 2014 (142)
32 1000GENOMES ss1289361040 Aug 21, 2014 (142)
33 DDI ss1425686341 Apr 01, 2015 (144)
34 EVA_GENOME_DK ss1573852865 Apr 01, 2015 (144)
35 EVA_DECODE ss1584134444 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1599387211 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1642381244 Apr 01, 2015 (144)
38 EVA_SVP ss1712305671 Apr 01, 2015 (144)
39 ILLUMINA ss1751868003 Sep 08, 2015 (146)
40 HAMMER_LAB ss1793723886 Sep 08, 2015 (146)
41 WEILL_CORNELL_DGM ss1917967054 Feb 12, 2016 (147)
42 ILLUMINA ss1945982058 Feb 12, 2016 (147)
43 ILLUMINA ss1958231558 Feb 12, 2016 (147)
44 GENOMED ss1966668048 Jul 19, 2016 (147)
45 JJLAB ss2019501142 Sep 14, 2016 (149)
46 USC_VALOUEV ss2147488373 Dec 20, 2016 (150)
47 HUMAN_LONGEVITY ss2159407770 Dec 20, 2016 (150)
48 TOPMED ss2321547549 Dec 20, 2016 (150)
49 SYSTEMSBIOZJU ss2624266231 Nov 08, 2017 (151)
50 ILLUMINA ss2632465998 Nov 08, 2017 (151)
51 GRF ss2697379023 Nov 08, 2017 (151)
52 ILLUMINA ss2710663633 Nov 08, 2017 (151)
53 GNOMAD ss2750702511 Nov 08, 2017 (151)
54 SWEGEN ss2986158802 Nov 08, 2017 (151)
55 ILLUMINA ss3021044476 Nov 08, 2017 (151)
56 BIOINF_KMB_FNS_UNIBA ss3023514779 Nov 08, 2017 (151)
57 TOPMED ss3066540586 Nov 08, 2017 (151)
58 CSHL ss3343275857 Nov 08, 2017 (151)
59 ILLUMINA ss3625523549 Oct 11, 2018 (152)
60 ILLUMINA ss3626007650 Oct 11, 2018 (152)
61 ILLUMINA ss3630505954 Oct 11, 2018 (152)
62 ILLUMINA ss3632878096 Oct 11, 2018 (152)
63 ILLUMINA ss3633571551 Oct 11, 2018 (152)
64 ILLUMINA ss3634302361 Oct 11, 2018 (152)
65 ILLUMINA ss3635265753 Oct 11, 2018 (152)
66 ILLUMINA ss3635978850 Oct 11, 2018 (152)
67 ILLUMINA ss3637016094 Oct 11, 2018 (152)
68 ILLUMINA ss3637732665 Oct 11, 2018 (152)
69 ILLUMINA ss3640009727 Oct 11, 2018 (152)
70 ILLUMINA ss3642746935 Oct 11, 2018 (152)
71 ILLUMINA ss3644477914 Oct 11, 2018 (152)
72 URBANLAB ss3646582279 Oct 11, 2018 (152)
73 ILLUMINA ss3651366543 Oct 11, 2018 (152)
74 EGCUT_WGS ss3654269804 Jul 12, 2019 (153)
75 EVA_DECODE ss3686003649 Jul 12, 2019 (153)
76 ILLUMINA ss3724988854 Jul 12, 2019 (153)
77 ACPOP ss3726721050 Jul 12, 2019 (153)
78 ILLUMINA ss3744040803 Jul 12, 2019 (153)
79 ILLUMINA ss3744603291 Jul 12, 2019 (153)
80 EVA ss3745727466 Jul 12, 2019 (153)
81 PAGE_CC ss3770779103 Jul 12, 2019 (153)
82 ILLUMINA ss3772105041 Jul 12, 2019 (153)
83 KHV_HUMAN_GENOMES ss3798750180 Jul 12, 2019 (153)
84 EVA ss3825983934 Apr 25, 2020 (154)
85 SGDP_PRJ ss3848011459 Apr 25, 2020 (154)
86 KRGDB ss3892854954 Apr 25, 2020 (154)
87 KOGIC ss3943642387 Apr 25, 2020 (154)
88 EVA ss3984450815 Apr 25, 2021 (155)
89 EVA ss4016889234 Apr 25, 2021 (155)
90 TOPMED ss4436604507 Apr 25, 2021 (155)
91 TOMMO_GENOMICS ss5142080289 Apr 25, 2021 (155)
92 1000Genomes NC_000001.10 - 1305561 Oct 11, 2018 (152)
93 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 1305561 Oct 11, 2018 (152)
94 Genetic variation in the Estonian population NC_000001.10 - 1305561 Oct 11, 2018 (152)
95 The Danish reference pan genome NC_000001.10 - 1305561 Apr 25, 2020 (154)
96 gnomAD - Genomes NC_000001.11 - 1370181 Apr 25, 2021 (155)
97 Genome of the Netherlands Release 5 NC_000001.10 - 1305561 Apr 25, 2020 (154)
98 HapMap NC_000001.11 - 1370181 Apr 25, 2020 (154)
99 KOREAN population from KRGDB NC_000001.10 - 1305561 Apr 25, 2020 (154)
100 Korean Genome Project NC_000001.11 - 1370181 Apr 25, 2020 (154)
101 Northern Sweden NC_000001.10 - 1305561 Jul 12, 2019 (153)
102 The PAGE Study NC_000001.11 - 1370181 Jul 12, 2019 (153)
103 CNV burdens in cranial meningiomas NC_000001.10 - 1305561 Apr 25, 2021 (155)
104 Qatari NC_000001.10 - 1305561 Apr 25, 2020 (154)
105 SGDP_PRJ NC_000001.10 - 1305561 Apr 25, 2020 (154)
106 Siberian NC_000001.10 - 1305561 Apr 25, 2020 (154)
107 8.3KJPN NC_000001.10 - 1305561 Apr 25, 2021 (155)
108 TopMed NC_000001.11 - 1370181 Apr 25, 2021 (155)
109 UK 10K study - Twins NC_000001.10 - 1305561 Oct 11, 2018 (152)
110 A Vietnamese Genetic Variation Database NC_000001.10 - 1305561 Jul 12, 2019 (153)
111 ALFA NC_000001.11 - 1370181 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)
rs45498503 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
32348, ss3892854954 NC_000001.10:1305560:C:A NC_000001.11:1370180:C:A (self)
32348, ss3892854954 NC_000001.10:1305560:C:G NC_000001.11:1370180:C:G (self)
ss205270491, ss275683142, ss283988318, ss480204545, ss825658802, ss1584134444, ss1712305671, ss3642746935 NC_000001.9:1295423:C:T NC_000001.11:1370180:C:T (self)
26511, 10014, 8052, 1360099, 4017, 32348, 5915, 114, 8984, 28439, 4727, 49596, 10014, 2113, ss328361161, ss480214998, ss480943906, ss484900371, ss536955265, ss553716776, ss647520127, ss778457203, ss782896489, ss783859916, ss832151192, ss833912870, ss974774467, ss1067614955, ss1289361040, ss1425686341, ss1573852865, ss1599387211, ss1642381244, ss1751868003, ss1793723886, ss1917967054, ss1945982058, ss1958231558, ss1966668048, ss2019501142, ss2147488373, ss2321547549, ss2624266231, ss2632465998, ss2697379023, ss2710663633, ss2750702511, ss2986158802, ss3021044476, ss3343275857, ss3625523549, ss3626007650, ss3630505954, ss3632878096, ss3633571551, ss3634302361, ss3635265753, ss3635978850, ss3637016094, ss3637732665, ss3640009727, ss3644477914, ss3651366543, ss3654269804, ss3726721050, ss3744040803, ss3744603291, ss3745727466, ss3772105041, ss3825983934, ss3848011459, ss3892854954, ss3984450815, ss4016889234, ss5142080289 NC_000001.10:1305560:C:T NC_000001.11:1370180:C:T (self)
215266, 434, 20388, 572, 124860, 210842, 12205523866, ss2159407770, ss3023514779, ss3066540586, ss3646582279, ss3686003649, ss3724988854, ss3770779103, ss3798750180, ss3943642387, ss4436604507 NC_000001.11:1370180:C:T NC_000001.11:1370180:C:T (self)
ss23148415, ss68756333, ss75318330, ss105112450, ss119879776, ss123264328, ss153643701, ss154530620, ss160431902, ss170758182, ss172771977, ss244282910 NT_004350.19:784192:C:T NC_000001.11:1370180: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 rs17160669

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