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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.

rs6656694

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:199599366 (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>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.337349 (89293/264690, TOPMED)
C=0.337647 (47178/139726, GnomAD)
C=0.32536 (6146/18890, ALFA) (+ 15 more)
C=0.24308 (4074/16760, 8.3KJPN)
C=0.3213 (1609/5008, 1000G)
C=0.2857 (1280/4480, Estonian)
C=0.3275 (1262/3854, ALSPAC)
C=0.3163 (1173/3708, TWINSUK)
C=0.2379 (697/2930, KOREAN)
C=0.2342 (429/1832, Korea1K)
C=0.314 (313/998, GoNL)
C=0.275 (165/600, NorthernSweden)
G=0.047 (25/534, MGP)
C=0.217 (110/508, SGDP_PRJ)
C=0.315 (68/216, Qatari)
C=0.201 (43/214, Vietnamese)
C=0.13 (7/54, Siberian)
C=0.38 (15/40, 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 1 NC_000001.11:g.199599366C>G
GRCh37.p13 chr 1 NC_000001.10:g.199568494C>G
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 18890 C=0.32536 G=0.67464
European Sub 14286 C=0.31527 G=0.68473
African Sub 2946 C=0.4107 G=0.5893
African Others Sub 114 C=0.430 G=0.570
African American Sub 2832 C=0.4100 G=0.5900
Asian Sub 112 C=0.143 G=0.857
East Asian Sub 86 C=0.13 G=0.87
Other Asian Sub 26 C=0.19 G=0.81
Latin American 1 Sub 146 C=0.363 G=0.637
Latin American 2 Sub 610 C=0.179 G=0.821
South Asian Sub 98 C=0.44 G=0.56
Other Sub 692 C=0.305 G=0.695


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").

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Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.337349 G=0.662651
gnomAD - Genomes Global Study-wide 139726 C=0.337647 G=0.662353
gnomAD - Genomes European Sub 75764 C=0.30901 G=0.69099
gnomAD - Genomes African Sub 41774 C=0.41866 G=0.58134
gnomAD - Genomes American Sub 13612 C=0.26741 G=0.73259
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.4097 G=0.5903
gnomAD - Genomes East Asian Sub 3108 C=0.1879 G=0.8121
gnomAD - Genomes Other Sub 2146 C=0.3225 G=0.6775
8.3KJPN JAPANESE Study-wide 16760 C=0.24308 G=0.75692
1000Genomes Global Study-wide 5008 C=0.3213 G=0.6787
1000Genomes African Sub 1322 C=0.4266 G=0.5734
1000Genomes East Asian Sub 1008 C=0.1528 G=0.8472
1000Genomes Europe Sub 1006 C=0.3459 G=0.6541
1000Genomes South Asian Sub 978 C=0.380 G=0.620
1000Genomes American Sub 694 C=0.246 G=0.754
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.2857 G=0.7143
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.3275 G=0.6725
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.3163 G=0.6837
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.2379 G=0.7621
Korean Genome Project KOREAN Study-wide 1832 C=0.2342 G=0.7658
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.314 G=0.686
Northern Sweden ACPOP Study-wide 600 C=0.275 G=0.725
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.953 G=0.047
SGDP_PRJ Global Study-wide 508 C=0.217 G=0.783
Qatari Global Study-wide 216 C=0.315 G=0.685
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.201 G=0.799
Siberian Global Study-wide 54 C=0.13 G=0.87
The Danish reference pan genome Danish Study-wide 40 C=0.38 G=0.62
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= G
GRCh38.p13 chr 1 NC_000001.11:g.199599366= NC_000001.11:g.199599366C>G
GRCh37.p13 chr 1 NC_000001.10:g.199568494= NC_000001.10:g.199568494C>G
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, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss9808874 Jul 11, 2003 (116)
2 CSHL-HAPMAP ss16384759 Feb 27, 2004 (126)
3 SC_SNP ss18070163 Feb 27, 2004 (126)
4 SSAHASNP ss20435161 Apr 05, 2004 (126)
5 HGSV ss77176800 Dec 06, 2007 (129)
6 HGSV ss81212206 Dec 16, 2007 (130)
7 BCMHGSC_JDW ss87930480 Mar 23, 2008 (129)
8 HUMANGENOME_JCVI ss97996231 Feb 06, 2009 (130)
9 BGI ss106623476 Feb 06, 2009 (130)
10 1000GENOMES ss108853746 Jan 23, 2009 (130)
11 1000GENOMES ss111612614 Jan 25, 2009 (130)
12 ILLUMINA-UK ss119169383 Dec 01, 2009 (131)
13 ENSEMBL ss138134039 Dec 01, 2009 (131)
14 ENSEMBL ss139104440 Dec 01, 2009 (131)
15 GMI ss156142831 Dec 01, 2009 (131)
16 COMPLETE_GENOMICS ss164878105 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss165663862 Jul 04, 2010 (132)
18 COMPLETE_GENOMICS ss167419295 Jul 04, 2010 (132)
19 BUSHMAN ss199464789 Jul 04, 2010 (132)
20 BCM-HGSC-SUB ss205309574 Jul 04, 2010 (132)
21 1000GENOMES ss218819628 Jul 14, 2010 (132)
22 1000GENOMES ss230854723 Jul 14, 2010 (132)
23 1000GENOMES ss238476023 Jul 15, 2010 (132)
24 BL ss253739249 May 09, 2011 (134)
25 GMI ss276170590 May 04, 2012 (137)
26 GMI ss284207037 Apr 25, 2013 (138)
27 PJP ss290709847 May 09, 2011 (134)
28 TISHKOFF ss555032521 Apr 25, 2013 (138)
29 SSMP ss648618870 Apr 25, 2013 (138)
30 EVA-GONL ss976016437 Aug 21, 2014 (142)
31 JMKIDD_LAB ss1068509658 Aug 21, 2014 (142)
32 1000GENOMES ss1294175312 Aug 21, 2014 (142)
33 DDI ss1426075551 Apr 01, 2015 (144)
34 EVA_GENOME_DK ss1574598325 Apr 01, 2015 (144)
35 EVA_DECODE ss1585411383 Apr 01, 2015 (144)
36 EVA_UK10K_ALSPAC ss1601882514 Apr 01, 2015 (144)
37 EVA_UK10K_TWINSUK ss1644876547 Apr 01, 2015 (144)
38 EVA_MGP ss1710937645 Apr 01, 2015 (144)
39 HAMMER_LAB ss1795552881 Sep 08, 2015 (146)
40 WEILL_CORNELL_DGM ss1919245963 Feb 12, 2016 (147)
41 GENOMED ss1966943437 Jul 19, 2016 (147)
42 JJLAB ss2020141915 Sep 14, 2016 (149)
43 USC_VALOUEV ss2148168617 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2169127094 Dec 20, 2016 (150)
45 TOPMED ss2331711340 Dec 20, 2016 (150)
46 SYSTEMSBIOZJU ss2624578370 Nov 08, 2017 (151)
47 GRF ss2698158246 Nov 08, 2017 (151)
48 GNOMAD ss2764877828 Nov 08, 2017 (151)
49 SWEGEN ss2988253014 Nov 08, 2017 (151)
50 BIOINF_KMB_FNS_UNIBA ss3023830645 Nov 08, 2017 (151)
51 TOPMED ss3100326836 Nov 08, 2017 (151)
52 CSHL ss3343855684 Nov 08, 2017 (151)
53 URBANLAB ss3646860328 Oct 11, 2018 (152)
54 EGCUT_WGS ss3656213546 Jul 12, 2019 (153)
55 EVA_DECODE ss3688391495 Jul 12, 2019 (153)
56 ACPOP ss3727756096 Jul 12, 2019 (153)
57 EVA ss3747187472 Jul 12, 2019 (153)
58 PACBIO ss3783654828 Jul 12, 2019 (153)
59 PACBIO ss3789272309 Jul 12, 2019 (153)
60 PACBIO ss3794144496 Jul 12, 2019 (153)
61 KHV_HUMAN_GENOMES ss3800195098 Jul 12, 2019 (153)
62 EVA ss3826582554 Apr 25, 2020 (154)
63 EVA ss3836690305 Apr 25, 2020 (154)
64 EVA ss3842101284 Apr 25, 2020 (154)
65 SGDP_PRJ ss3850652319 Apr 25, 2020 (154)
66 KRGDB ss3895934753 Apr 25, 2020 (154)
67 KOGIC ss3946246473 Apr 25, 2020 (154)
68 TOPMED ss4479429065 Apr 25, 2021 (155)
69 TOMMO_GENOMICS ss5147890375 Apr 25, 2021 (155)
70 1000Genomes NC_000001.10 - 199568494 Oct 11, 2018 (152)
71 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 199568494 Oct 11, 2018 (152)
72 Genetic variation in the Estonian population NC_000001.10 - 199568494 Oct 11, 2018 (152)
73 The Danish reference pan genome NC_000001.10 - 199568494 Apr 25, 2020 (154)
74 gnomAD - Genomes NC_000001.11 - 199599366 Apr 25, 2021 (155)
75 Genome of the Netherlands Release 5 NC_000001.10 - 199568494 Apr 25, 2020 (154)
76 KOREAN population from KRGDB NC_000001.10 - 199568494 Apr 25, 2020 (154)
77 Korean Genome Project NC_000001.11 - 199599366 Apr 25, 2020 (154)
78 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 199568494 Apr 25, 2020 (154)
79 Northern Sweden NC_000001.10 - 199568494 Jul 12, 2019 (153)
80 Qatari NC_000001.10 - 199568494 Apr 25, 2020 (154)
81 SGDP_PRJ NC_000001.10 - 199568494 Apr 25, 2020 (154)
82 Siberian NC_000001.10 - 199568494 Apr 25, 2020 (154)
83 8.3KJPN NC_000001.10 - 199568494 Apr 25, 2021 (155)
84 TopMed NC_000001.11 - 199599366 Apr 25, 2021 (155)
85 UK 10K study - Twins NC_000001.10 - 199568494 Oct 11, 2018 (152)
86 A Vietnamese Genetic Variation Database NC_000001.10 - 199568494 Jul 12, 2019 (153)
87 ALFA NC_000001.11 - 199599366 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)
rs10919721 Mar 11, 2006 (126)
rs61223962 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77176800, ss81212206 NC_000001.8:196300150:C:G NC_000001.11:199599365:C:G (self)
ss87930480, ss108853746, ss111612614, ss119169383, ss164878105, ss165663862, ss167419295, ss199464789, ss205309574, ss253739249, ss276170590, ss284207037, ss290709847, ss1585411383 NC_000001.9:197835116:C:G NC_000001.11:199599365:C:G (self)
5012934, 2755403, 1951794, 1835856, 1203219, 3112147, 54397, 1040961, 1287893, 2669299, 684971, 5859682, 2755403, 595904, ss218819628, ss230854723, ss238476023, ss555032521, ss648618870, ss976016437, ss1068509658, ss1294175312, ss1426075551, ss1574598325, ss1601882514, ss1644876547, ss1710937645, ss1795552881, ss1919245963, ss1966943437, ss2020141915, ss2148168617, ss2331711340, ss2624578370, ss2698158246, ss2764877828, ss2988253014, ss3343855684, ss3656213546, ss3727756096, ss3747187472, ss3783654828, ss3789272309, ss3794144496, ss3826582554, ss3836690305, ss3850652319, ss3895934753, ss5147890375 NC_000001.10:199568493:C:G NC_000001.11:199599365:C:G (self)
36156858, 2624474, 27040377, 43035400, 15904812190, ss2169127094, ss3023830645, ss3100326836, ss3646860328, ss3688391495, ss3800195098, ss3842101284, ss3946246473, ss4479429065 NC_000001.11:199599365:C:G NC_000001.11:199599365:C:G (self)
ss97996231, ss106623476, ss138134039, ss139104440, ss156142831 NT_004487.19:51057135:C:G NC_000001.11:199599365:C:G (self)
ss9808874, ss16384759, ss18070163, ss20435161 NT_004671.15:10923477:C:G NC_000001.11:199599365:C:G (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 rs6656694

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