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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.

rs1917017

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:31244150 (GRCh38.p14) 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>C
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.281084 (74400/264690, TOPMED)
G=0.263023 (36747/139710, GnomAD)
A=0.32306 (9129/28258, 14KJPN) (+ 17 more)
G=0.23889 (4257/17820, ALFA)
A=0.31991 (5361/16758, 8.3KJPN)
G=0.3877 (2483/6404, 1000G_30x)
G=0.3914 (1960/5008, 1000G)
G=0.2107 (944/4480, Estonian)
G=0.2032 (783/3854, ALSPAC)
G=0.1874 (695/3708, TWINSUK)
A=0.3454 (1012/2930, KOREAN)
A=0.3275 (600/1832, Korea1K)
G=0.175 (175/998, GoNL)
G=0.213 (128/600, NorthernSweden)
G=0.216 (97/450, SGDP_PRJ)
G=0.231 (50/216, Qatari)
A=0.316 (67/212, Vietnamese)
G=0.386 (81/210, HapMap)
G=0.21 (11/52, Siberian)
G=0.20 (8/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome

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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 17820 G=0.23889 A=0.76111, C=0.00000
European Sub 13658 G=0.20559 A=0.79441, C=0.00000
African Sub 2508 G=0.3449 A=0.6551, C=0.0000
African Others Sub 98 G=0.40 A=0.60, C=0.00
African American Sub 2410 G=0.3427 A=0.6573, C=0.0000
Asian Sub 112 G=0.696 A=0.304, C=0.000
East Asian Sub 86 G=0.71 A=0.29, C=0.00
Other Asian Sub 26 G=0.65 A=0.35, C=0.00
Latin American 1 Sub 146 G=0.342 A=0.658, C=0.000
Latin American 2 Sub 610 G=0.372 A=0.628, C=0.000
South Asian Sub 98 G=0.38 A=0.62, C=0.00
Other Sub 688 G=0.279 A=0.721, 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 G=0.281084 A=0.718916
gnomAD - Genomes Global Study-wide 139710 G=0.263023 A=0.736977
gnomAD - Genomes European Sub 75672 G=0.20516 A=0.79484
gnomAD - Genomes African Sub 41836 G=0.32269 A=0.67731
gnomAD - Genomes American Sub 13620 G=0.32137 A=0.67863
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.2291 A=0.7709
gnomAD - Genomes East Asian Sub 3116 G=0.6528 A=0.3472
gnomAD - Genomes Other Sub 2144 G=0.2565 A=0.7435
14KJPN JAPANESE Study-wide 28258 G=0.67694 A=0.32306
Allele Frequency Aggregator Total Global 17820 G=0.23889 A=0.76111, C=0.00000
Allele Frequency Aggregator European Sub 13658 G=0.20559 A=0.79441, C=0.00000
Allele Frequency Aggregator African Sub 2508 G=0.3449 A=0.6551, C=0.0000
Allele Frequency Aggregator Other Sub 688 G=0.279 A=0.721, C=0.000
Allele Frequency Aggregator Latin American 2 Sub 610 G=0.372 A=0.628, C=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 G=0.342 A=0.658, C=0.000
Allele Frequency Aggregator Asian Sub 112 G=0.696 A=0.304, C=0.000
Allele Frequency Aggregator South Asian Sub 98 G=0.38 A=0.62, C=0.00
8.3KJPN JAPANESE Study-wide 16758 G=0.68009 A=0.31991
1000Genomes_30x Global Study-wide 6404 G=0.3877 A=0.6123
1000Genomes_30x African Sub 1786 G=0.3382 A=0.6618
1000Genomes_30x Europe Sub 1266 G=0.2125 A=0.7875
1000Genomes_30x South Asian Sub 1202 G=0.4484 A=0.5516
1000Genomes_30x East Asian Sub 1170 G=0.6291 A=0.3709
1000Genomes_30x American Sub 980 G=0.342 A=0.658
1000Genomes Global Study-wide 5008 G=0.3914 A=0.6086
1000Genomes African Sub 1322 G=0.3404 A=0.6596
1000Genomes East Asian Sub 1008 G=0.6310 A=0.3690
1000Genomes Europe Sub 1006 G=0.2147 A=0.7853
1000Genomes South Asian Sub 978 G=0.429 A=0.571
1000Genomes American Sub 694 G=0.343 A=0.657
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.2107 A=0.7893
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.2032 A=0.7968
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.1874 A=0.8126
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6546 A=0.3454, C=0.0000
Korean Genome Project KOREAN Study-wide 1832 G=0.6725 A=0.3275
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.175 A=0.825
Northern Sweden ACPOP Study-wide 600 G=0.213 A=0.787
SGDP_PRJ Global Study-wide 450 G=0.216 A=0.784
Qatari Global Study-wide 216 G=0.231 A=0.769
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.684 A=0.316
HapMap Global Study-wide 210 G=0.386 A=0.614
HapMap American Sub 120 G=0.150 A=0.850
HapMap Asian Sub 90 G=0.70 A=0.30
Siberian Global Study-wide 52 G=0.21 A=0.79
The Danish reference pan genome Danish Study-wide 40 G=0.20 A=0.80
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.p14 chr 7 NC_000007.14:g.31244150G>A
GRCh38.p14 chr 7 NC_000007.14:g.31244150G>C
GRCh37.p13 chr 7 NC_000007.13:g.31283764G>A
GRCh37.p13 chr 7 NC_000007.13:g.31283764G>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
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 C
GRCh38.p14 chr 7 NC_000007.14:g.31244150= NC_000007.14:g.31244150G>A NC_000007.14:g.31244150G>C
GRCh37.p13 chr 7 NC_000007.13:g.31283764= NC_000007.13:g.31283764G>A NC_000007.13:g.31283764G>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#.

73 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2802543 Jan 12, 2001 (92)
2 SC_JCM ss3555649 Sep 28, 2001 (103)
3 WI_SSAHASNP ss11881217 Jul 11, 2003 (116)
4 CSHL-HAPMAP ss17934433 Feb 27, 2004 (120)
5 SSAHASNP ss22516997 Apr 05, 2004 (123)
6 SSAHASNP ss22888162 Apr 05, 2004 (123)
7 PERLEGEN ss23435063 Sep 20, 2004 (123)
8 ABI ss44825231 Mar 13, 2006 (126)
9 HGSV ss84239919 Dec 15, 2007 (130)
10 BCMHGSC_JDW ss93654044 Mar 24, 2008 (129)
11 HUMANGENOME_JCVI ss98143057 Feb 06, 2009 (130)
12 1000GENOMES ss111759448 Jan 25, 2009 (130)
13 1000GENOMES ss113539669 Jan 25, 2009 (130)
14 ILLUMINA-UK ss116010717 Feb 14, 2009 (130)
15 ENSEMBL ss142808039 Dec 01, 2009 (131)
16 ENSEMBL ss142904698 Dec 01, 2009 (131)
17 COMPLETE_GENOMICS ss163932545 Jul 04, 2010 (132)
18 BCM-HGSC-SUB ss208221594 Jul 04, 2010 (132)
19 1000GENOMES ss222993926 Jul 14, 2010 (132)
20 1000GENOMES ss233913337 Jul 15, 2010 (132)
21 1000GENOMES ss240880505 Jul 15, 2010 (132)
22 BL ss254161228 May 09, 2011 (134)
23 GMI ss279245805 May 04, 2012 (137)
24 GMI ss285599789 Apr 25, 2013 (138)
25 PJP ss294040678 May 09, 2011 (134)
26 SSMP ss654259321 Apr 25, 2013 (138)
27 EVA-GONL ss984113286 Aug 21, 2014 (142)
28 JMKIDD_LAB ss1074486897 Aug 21, 2014 (142)
29 1000GENOMES ss1324524429 Aug 21, 2014 (142)
30 DDI ss1431074680 Apr 01, 2015 (144)
31 EVA_GENOME_DK ss1582135575 Apr 01, 2015 (144)
32 EVA_UK10K_ALSPAC ss1617891552 Apr 01, 2015 (144)
33 EVA_UK10K_TWINSUK ss1660885585 Apr 01, 2015 (144)
34 HAMMER_LAB ss1804937727 Sep 08, 2015 (146)
35 WEILL_CORNELL_DGM ss1927356486 Feb 12, 2016 (147)
36 GENOMED ss1970662390 Jul 19, 2016 (147)
37 JJLAB ss2024357743 Sep 14, 2016 (149)
38 USC_VALOUEV ss2152553345 Dec 20, 2016 (150)
39 HUMAN_LONGEVITY ss2292890802 Dec 20, 2016 (150)
40 GRF ss2708211337 Nov 08, 2017 (151)
41 GNOMAD ss2851433059 Nov 08, 2017 (151)
42 SWEGEN ss3000867359 Nov 08, 2017 (151)
43 BIOINF_KMB_FNS_UNIBA ss3025972979 Nov 08, 2017 (151)
44 CSHL ss3347509559 Nov 08, 2017 (151)
45 URBANLAB ss3648595131 Oct 12, 2018 (152)
46 EGCUT_WGS ss3668796727 Jul 13, 2019 (153)
47 EVA_DECODE ss3719393613 Jul 13, 2019 (153)
48 ACPOP ss3734491959 Jul 13, 2019 (153)
49 EVA ss3766372724 Jul 13, 2019 (153)
50 PACBIO ss3785773349 Jul 13, 2019 (153)
51 PACBIO ss3791081943 Jul 13, 2019 (153)
52 PACBIO ss3795961709 Jul 13, 2019 (153)
53 KHV_HUMAN_GENOMES ss3809538229 Jul 13, 2019 (153)
54 EVA ss3830493524 Apr 26, 2020 (154)
55 EVA ss3838734066 Apr 26, 2020 (154)
56 EVA ss3844185530 Apr 26, 2020 (154)
57 SGDP_PRJ ss3866947624 Apr 26, 2020 (154)
58 KRGDB ss3913993127 Apr 26, 2020 (154)
59 KOGIC ss3961167271 Apr 26, 2020 (154)
60 TOPMED ss4740737639 Apr 26, 2021 (155)
61 TOMMO_GENOMICS ss5182469541 Apr 26, 2021 (155)
62 1000G_HIGH_COVERAGE ss5272347674 Oct 14, 2022 (156)
63 EVA ss5372596155 Oct 14, 2022 (156)
64 HUGCELL_USP ss5469582150 Oct 14, 2022 (156)
65 EVA ss5508899742 Oct 14, 2022 (156)
66 1000G_HIGH_COVERAGE ss5560249715 Oct 14, 2022 (156)
67 SANFORD_IMAGENETICS ss5642643822 Oct 14, 2022 (156)
68 TOMMO_GENOMICS ss5722109560 Oct 14, 2022 (156)
69 YY_MCH ss5808466180 Oct 14, 2022 (156)
70 EVA ss5822612488 Oct 14, 2022 (156)
71 EVA ss5855828465 Oct 14, 2022 (156)
72 EVA ss5858304532 Oct 14, 2022 (156)
73 EVA ss5971850375 Oct 14, 2022 (156)
74 1000Genomes NC_000007.13 - 31283764 Oct 12, 2018 (152)
75 1000Genomes_30x NC_000007.14 - 31244150 Oct 14, 2022 (156)
76 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 31283764 Oct 12, 2018 (152)
77 Genetic variation in the Estonian population NC_000007.13 - 31283764 Oct 12, 2018 (152)
78 The Danish reference pan genome NC_000007.13 - 31283764 Apr 26, 2020 (154)
79 gnomAD - Genomes NC_000007.14 - 31244150 Apr 26, 2021 (155)
80 Genome of the Netherlands Release 5 NC_000007.13 - 31283764 Apr 26, 2020 (154)
81 HapMap NC_000007.14 - 31244150 Apr 26, 2020 (154)
82 KOREAN population from KRGDB NC_000007.13 - 31283764 Apr 26, 2020 (154)
83 Korean Genome Project NC_000007.14 - 31244150 Apr 26, 2020 (154)
84 Northern Sweden NC_000007.13 - 31283764 Jul 13, 2019 (153)
85 Qatari NC_000007.13 - 31283764 Apr 26, 2020 (154)
86 SGDP_PRJ NC_000007.13 - 31283764 Apr 26, 2020 (154)
87 Siberian NC_000007.13 - 31283764 Apr 26, 2020 (154)
88 8.3KJPN NC_000007.13 - 31283764 Apr 26, 2021 (155)
89 14KJPN NC_000007.14 - 31244150 Oct 14, 2022 (156)
90 TopMed NC_000007.14 - 31244150 Apr 26, 2021 (155)
91 UK 10K study - Twins NC_000007.13 - 31283764 Oct 12, 2018 (152)
92 A Vietnamese Genetic Variation Database NC_000007.13 - 31283764 Jul 13, 2019 (153)
93 ALFA NC_000007.14 - 31244150 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)
rs2536531 Mar 26, 2002 (103)
rs12701069 Sep 24, 2004 (123)
rs16875416 Oct 08, 2004 (123)
rs60965261 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss84239919 NC_000007.11:31057003:G:A NC_000007.14:31244149:G:A (self)
ss93654044, ss111759448, ss113539669, ss116010717, ss163932545, ss208221594, ss254161228, ss279245805, ss285599789, ss294040678 NC_000007.12:31250288:G:A NC_000007.14:31244149:G:A (self)
36472965, 20337091, 14534975, 8300514, 9067793, 21170521, 7776824, 9398416, 18964604, 5069699, 40438848, 20337091, 4531037, ss222993926, ss233913337, ss240880505, ss654259321, ss984113286, ss1074486897, ss1324524429, ss1431074680, ss1582135575, ss1617891552, ss1660885585, ss1804937727, ss1927356486, ss1970662390, ss2024357743, ss2152553345, ss2708211337, ss2851433059, ss3000867359, ss3347509559, ss3668796727, ss3734491959, ss3766372724, ss3785773349, ss3791081943, ss3795961709, ss3830493524, ss3838734066, ss3866947624, ss3913993127, ss5182469541, ss5372596155, ss5508899742, ss5642643822, ss5822612488, ss5971850375 NC_000007.13:31283763:G:A NC_000007.14:31244149:G:A (self)
47775650, 257159737, 3370278, 17545272, 55946664, 578115198, 7675395575, ss2292890802, ss3025972979, ss3648595131, ss3719393613, ss3809538229, ss3844185530, ss3961167271, ss4740737639, ss5272347674, ss5469582150, ss5560249715, ss5722109560, ss5808466180, ss5855828465, ss5858304532 NC_000007.14:31244149:G:A NC_000007.14:31244149:G:A (self)
ss11881217 NT_007819.13:30577371:G:A NC_000007.14:31244149:G:A (self)
ss17934433, ss22516997, ss22888162 NT_007819.14:30577371:G:A NC_000007.14:31244149:G:A (self)
ss2802543, ss3555649, ss23435063, ss44825231, ss98143057, ss142808039, ss142904698 NT_007819.17:31273763:G:A NC_000007.14:31244149:G:A (self)
21170521, ss3913993127 NC_000007.13:31283763:G:C NC_000007.14:31244149:G:C (self)
7675395575 NC_000007.14:31244149:G:C NC_000007.14:31244149:G: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 rs1917017

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.post761+d5e8e07