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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.

rs340

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr7:95633909 (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=0.099441 (26321/264690, TOPMED)
C=0.093297 (13076/140154, GnomAD)
C=0.06441 (2239/34760, ALFA) (+ 17 more)
C=0.11935 (2000/16758, 8.3KJPN)
C=0.1276 (639/5008, 1000G)
C=0.0493 (221/4480, Estonian)
C=0.0280 (108/3854, ALSPAC)
C=0.0345 (128/3708, TWINSUK)
C=0.0959 (281/2930, KOREAN)
C=0.1238 (233/1882, HapMap)
C=0.0955 (175/1832, Korea1K)
C=0.0450 (51/1134, Daghestan)
C=0.031 (31/998, GoNL)
C=0.065 (39/600, NorthernSweden)
C=0.102 (54/532, SGDP_PRJ)
C=0.065 (14/216, Qatari)
C=0.061 (13/214, Vietnamese)
C=0.08 (4/52, Siberian)
C=0.14 (6/42, Ancient Sardinia)
C=0.03 (1/40, 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 7 NC_000007.14:g.95633909C>A
GRCh38.p13 chr 7 NC_000007.14:g.95633909C>G
GRCh38.p13 chr 7 NC_000007.14:g.95633909C>T
GRCh37.p13 chr 7 NC_000007.13:g.95263221C>A
GRCh37.p13 chr 7 NC_000007.13:g.95263221C>G
GRCh37.p13 chr 7 NC_000007.13:g.95263221C>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 34760 C=0.06441 G=0.00000, T=0.93559
European Sub 25452 C=0.03489 G=0.00000, T=0.96511
African Sub 3344 C=0.1812 G=0.0000, T=0.8188
African Others Sub 112 C=0.161 G=0.000, T=0.839
African American Sub 3232 C=0.1819 G=0.0000, T=0.8181
Asian Sub 176 C=0.091 G=0.000, T=0.909
East Asian Sub 116 C=0.086 G=0.000, T=0.914
Other Asian Sub 60 C=0.10 G=0.00, T=0.90
Latin American 1 Sub 312 C=0.106 G=0.000, T=0.894
Latin American 2 Sub 2854 C=0.1661 G=0.0000, T=0.8339
South Asian Sub 126 C=0.071 G=0.000, T=0.929
Other Sub 2496 C=0.0853 G=0.0000, T=0.9147


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=0.099441 T=0.900559
gnomAD - Genomes Global Study-wide 140154 C=0.093297 T=0.906703
gnomAD - Genomes European Sub 75946 C=0.03928 T=0.96072
gnomAD - Genomes African Sub 41976 C=0.17319 T=0.82681
gnomAD - Genomes American Sub 13628 C=0.16018 T=0.83982
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.0331 T=0.9669
gnomAD - Genomes East Asian Sub 3130 C=0.1019 T=0.8981
gnomAD - Genomes Other Sub 2150 C=0.0981 T=0.9019
8.3KJPN JAPANESE Study-wide 16758 C=0.11935 T=0.88065
1000Genomes Global Study-wide 5008 C=0.1276 T=0.8724
1000Genomes African Sub 1322 C=0.2171 T=0.7829
1000Genomes East Asian Sub 1008 C=0.0923 T=0.9077
1000Genomes Europe Sub 1006 C=0.0328 T=0.9672
1000Genomes South Asian Sub 978 C=0.097 T=0.903
1000Genomes American Sub 694 C=0.189 T=0.811
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.0493 T=0.9507
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.0280 T=0.9720
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.0345 T=0.9655
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.0959 A=0.0000, G=0.0000, T=0.9041
HapMap Global Study-wide 1882 C=0.1238 T=0.8762
HapMap American Sub 770 C=0.090 T=0.910
HapMap African Sub 688 C=0.205 T=0.795
HapMap Asian Sub 248 C=0.081 T=0.919
HapMap Europe Sub 176 C=0.017 T=0.983
Korean Genome Project KOREAN Study-wide 1832 C=0.0955 T=0.9045
Genome-wide autozygosity in Daghestan Global Study-wide 1134 C=0.0450 T=0.9550
Genome-wide autozygosity in Daghestan Daghestan Sub 628 C=0.027 T=0.973
Genome-wide autozygosity in Daghestan Near_East Sub 142 C=0.042 T=0.958
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=0.057 T=0.943
Genome-wide autozygosity in Daghestan Europe Sub 108 C=0.037 T=0.963
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=0.16 T=0.84
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=0.03 T=0.97
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.031 T=0.969
Northern Sweden ACPOP Study-wide 600 C=0.065 T=0.935
SGDP_PRJ Global Study-wide 532 C=0.102 T=0.898
Qatari Global Study-wide 216 C=0.065 T=0.935
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.061 T=0.939
Siberian Global Study-wide 52 C=0.08 T=0.92
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 42 C=0.14 T=0.86
The Danish reference pan genome Danish Study-wide 40 C=0.03 T=0.97
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 7 NC_000007.14:g.95633909= NC_000007.14:g.95633909C>A NC_000007.14:g.95633909C>G NC_000007.14:g.95633909C>T
GRCh37.p13 chr 7 NC_000007.13:g.95263221= NC_000007.13:g.95263221C>A NC_000007.13:g.95263221C>G NC_000007.13:g.95263221C>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#.

92 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss341 Sep 19, 2000 (36)
2 KWOK ss411030 Jul 10, 2000 (79)
3 KWOK ss1238168 Oct 04, 2000 (86)
4 SC_JCM ss2512041 Nov 09, 2000 (92)
5 WI_SSAHASNP ss11845553 Jul 11, 2003 (116)
6 PERLEGEN ss16336212 Feb 28, 2004 (123)
7 CSHL-HAPMAP ss17943939 Feb 27, 2004 (120)
8 SSAHASNP ss22579738 Apr 05, 2004 (121)
9 SSAHASNP ss22963514 Apr 05, 2004 (121)
10 AFFY ss66027921 Dec 01, 2006 (127)
11 AFFY ss76809158 Dec 08, 2007 (130)
12 KRIBB_YJKIM ss80753372 Dec 15, 2007 (130)
13 HGSV ss81044498 Dec 15, 2007 (130)
14 BCMHGSC_JDW ss93730048 Mar 24, 2008 (129)
15 HUMANGENOME_JCVI ss98171056 Feb 05, 2009 (130)
16 BGI ss104451890 Dec 01, 2009 (131)
17 KRIBB_YJKIM ss104807678 Feb 05, 2009 (130)
18 1000GENOMES ss112372285 Jan 25, 2009 (130)
19 1000GENOMES ss114122103 Jan 25, 2009 (130)
20 ILLUMINA-UK ss116204722 Feb 14, 2009 (130)
21 ENSEMBL ss142697149 Dec 01, 2009 (131)
22 ENSEMBL ss143273035 Dec 01, 2009 (131)
23 GMI ss155217182 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss162543033 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss164893319 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss166877949 Jul 04, 2010 (132)
27 BUSHMAN ss197938631 Jul 04, 2010 (132)
28 BCM-HGSC-SUB ss207998833 Jul 04, 2010 (132)
29 1000GENOMES ss223214633 Jul 14, 2010 (132)
30 1000GENOMES ss234082991 Jul 15, 2010 (132)
31 1000GENOMES ss241017345 Jul 15, 2010 (132)
32 BL ss254526434 May 09, 2011 (134)
33 GMI ss279445928 May 04, 2012 (137)
34 GMI ss285679615 Apr 25, 2013 (138)
35 PJP ss293928140 May 09, 2011 (134)
36 ILLUMINA ss483921952 May 04, 2012 (137)
37 ILLUMINA ss485498320 May 04, 2012 (137)
38 ILLUMINA ss536115802 Sep 08, 2015 (146)
39 TISHKOFF ss560166393 Apr 25, 2013 (138)
40 SSMP ss654568329 Apr 25, 2013 (138)
41 ILLUMINA ss780458700 Sep 08, 2015 (146)
42 ILLUMINA ss782404603 Sep 08, 2015 (146)
43 ILLUMINA ss835948756 Sep 08, 2015 (146)
44 EVA-GONL ss984561798 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1074811652 Aug 21, 2014 (142)
46 1000GENOMES ss1326227676 Aug 21, 2014 (142)
47 HAMMER_LAB ss1397500877 Sep 08, 2015 (146)
48 DDI ss1431214096 Apr 01, 2015 (144)
49 EVA_GENOME_DK ss1582314031 Apr 01, 2015 (144)
50 EVA_DECODE ss1594139973 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1618742532 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1661736565 Apr 01, 2015 (144)
53 EVA_SVP ss1712972628 Apr 01, 2015 (144)
54 HAMMER_LAB ss1805120942 Sep 08, 2015 (146)
55 WEILL_CORNELL_DGM ss1927821561 Feb 12, 2016 (147)
56 GENOMED ss1970765398 Jul 19, 2016 (147)
57 JJLAB ss2024593849 Sep 14, 2016 (149)
58 ILLUMINA ss2095201682 Dec 20, 2016 (150)
59 USC_VALOUEV ss2152815250 Dec 20, 2016 (150)
60 HUMAN_LONGEVITY ss2295982044 Dec 20, 2016 (150)
61 TOPMED ss2465364840 Dec 20, 2016 (150)
62 SYSTEMSBIOZJU ss2626789081 Nov 08, 2017 (151)
63 ILLUMINA ss2634635110 Nov 08, 2017 (151)
64 GRF ss2708523897 Nov 08, 2017 (151)
65 GNOMAD ss2856442247 Nov 08, 2017 (151)
66 SWEGEN ss3001661063 Nov 08, 2017 (151)
67 BIOINF_KMB_FNS_UNIBA ss3026089794 Nov 08, 2017 (151)
68 CSHL ss3347739508 Nov 08, 2017 (151)
69 TOPMED ss3538268390 Nov 08, 2017 (151)
70 TOPMED ss3538268391 Nov 08, 2017 (151)
71 ILLUMINA ss3629867491 Oct 12, 2018 (152)
72 ILLUMINA ss3632540885 Oct 12, 2018 (152)
73 ILLUMINA ss3642576420 Oct 12, 2018 (152)
74 URBANLAB ss3648705297 Oct 12, 2018 (152)
75 ILLUMINA ss3653292351 Oct 12, 2018 (152)
76 EGCUT_WGS ss3669420068 Jul 13, 2019 (153)
77 EVA_DECODE ss3720245188 Jul 13, 2019 (153)
78 ACPOP ss3734878399 Jul 13, 2019 (153)
79 EVA ss3766891863 Jul 13, 2019 (153)
80 PACBIO ss3785897839 Jul 13, 2019 (153)
81 PACBIO ss3791187550 Jul 13, 2019 (153)
82 PACBIO ss3796067537 Jul 13, 2019 (153)
83 KHV_HUMAN_GENOMES ss3810064128 Jul 13, 2019 (153)
84 EVA ss3830708863 Apr 26, 2020 (154)
85 EVA ss3838853059 Apr 26, 2020 (154)
86 EVA ss3844308048 Apr 26, 2020 (154)
87 SGDP_PRJ ss3867924391 Apr 26, 2020 (154)
88 KRGDB ss3915201948 Apr 26, 2020 (154)
89 KOGIC ss3962128956 Apr 26, 2020 (154)
90 EVA ss3985309797 Apr 26, 2021 (155)
91 TOPMED ss4755596228 Apr 26, 2021 (155)
92 TOMMO_GENOMICS ss5184530368 Apr 26, 2021 (155)
93 1000Genomes NC_000007.13 - 95263221 Oct 12, 2018 (152)
94 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 95263221 Oct 12, 2018 (152)
95 Genome-wide autozygosity in Daghestan NC_000007.12 - 95101157 Apr 26, 2020 (154)
96 Genetic variation in the Estonian population NC_000007.13 - 95263221 Oct 12, 2018 (152)
97 The Danish reference pan genome NC_000007.13 - 95263221 Apr 26, 2020 (154)
98 gnomAD - Genomes NC_000007.14 - 95633909 Apr 26, 2021 (155)
99 Genome of the Netherlands Release 5 NC_000007.13 - 95263221 Apr 26, 2020 (154)
100 HapMap NC_000007.14 - 95633909 Apr 26, 2020 (154)
101 KOREAN population from KRGDB NC_000007.13 - 95263221 Apr 26, 2020 (154)
102 Korean Genome Project NC_000007.14 - 95633909 Apr 26, 2020 (154)
103 Northern Sweden NC_000007.13 - 95263221 Jul 13, 2019 (153)
104 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000007.13 - 95263221 Apr 26, 2021 (155)
105 Qatari NC_000007.13 - 95263221 Apr 26, 2020 (154)
106 SGDP_PRJ NC_000007.13 - 95263221 Apr 26, 2020 (154)
107 Siberian NC_000007.13 - 95263221 Apr 26, 2020 (154)
108 8.3KJPN NC_000007.13 - 95263221 Apr 26, 2021 (155)
109 TopMed NC_000007.14 - 95633909 Apr 26, 2021 (155)
110 UK 10K study - Twins NC_000007.13 - 95263221 Oct 12, 2018 (152)
111 A Vietnamese Genetic Variation Database NC_000007.13 - 95263221 Jul 13, 2019 (153)
112 ALFA NC_000007.14 - 95633909 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)
rs1682649 Jan 18, 2001 (92)
rs11567285 Oct 08, 2004 (123)
rs56514419 May 25, 2008 (130)
rs59766544 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
22379342, ss3915201948 NC_000007.13:95263220:C:A NC_000007.14:95633908:C:A (self)
22379342, ss3915201948 NC_000007.13:95263220:C:G NC_000007.14:95633908:C:G (self)
9778071789, ss3538268390 NC_000007.14:95633908:C:G NC_000007.14:95633908:C:G (self)
ss81044498 NC_000007.11:94907871:C:T NC_000007.14:95633908:C:T (self)
474978, ss93730048, ss112372285, ss114122103, ss116204722, ss162543033, ss164893319, ss166877949, ss197938631, ss207998833, ss254526434, ss279445928, ss285679615, ss293928140, ss485498320, ss1397500877, ss1594139973, ss1712972628 NC_000007.12:95101156:C:T NC_000007.14:95633908:C:T (self)
38237484, 21278045, 15158316, 8478970, 9499690, 22379342, 8163264, 535724, 9863491, 19941371, 5331604, 42499675, 21278045, 4745813, ss223214633, ss234082991, ss241017345, ss483921952, ss536115802, ss560166393, ss654568329, ss780458700, ss782404603, ss835948756, ss984561798, ss1074811652, ss1326227676, ss1431214096, ss1582314031, ss1618742532, ss1661736565, ss1805120942, ss1927821561, ss1970765398, ss2024593849, ss2095201682, ss2152815250, ss2465364840, ss2626789081, ss2634635110, ss2708523897, ss2856442247, ss3001661063, ss3347739508, ss3629867491, ss3632540885, ss3642576420, ss3653292351, ss3669420068, ss3734878399, ss3766891863, ss3785897839, ss3791187550, ss3796067537, ss3830708863, ss3838853059, ss3867924391, ss3915201948, ss3985309797, ss5184530368 NC_000007.13:95263220:C:T NC_000007.14:95633908:C:T (self)
269813657, 3450614, 18506957, 370851285, 592973787, 9778071789, ss2295982044, ss3026089794, ss3538268391, ss3648705297, ss3720245188, ss3810064128, ss3844308048, ss3962128956, ss4755596228 NC_000007.14:95633908:C:T NC_000007.14:95633908:C:T (self)
ss11845553 NT_007933.12:20497436:C:T NC_000007.14:95633908:C:T (self)
ss17943939, ss22579738, ss22963514 NT_007933.13:20497436:C:T NC_000007.14:95633908:C:T (self)
ss341, ss411030, ss1238168, ss2512041, ss16336212, ss66027921, ss76809158, ss80753372, ss98171056, ss104451890, ss104807678, ss142697149, ss143273035, ss155217182 NT_007933.15:33296063:C:T NC_000007.14:95633908: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 rs340

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