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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs856627

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr14:85032821 (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
A=0.212109 (56143/264690, TOPMED)
A=0.219992 (45115/205076, GENOGRAPHIC)
A=0.208865 (29234/139966, GnomAD) (+ 23 more)
A=0.21744 (16361/75244, ALFA)
A=0.38347 (10836/28258, 14KJPN)
A=0.38192 (6401/16760, 8.3KJPN)
A=0.2673 (1712/6404, 1000G_30x)
A=0.2708 (1356/5008, 1000G)
A=0.2174 (974/4480, Estonian)
A=0.2039 (786/3854, ALSPAC)
A=0.1955 (725/3708, TWINSUK)
A=0.3563 (1044/2930, KOREAN)
A=0.2831 (590/2084, HGDP_Stanford)
A=0.2388 (449/1880, HapMap)
A=0.3373 (618/1832, Korea1K)
A=0.2884 (327/1134, Daghestan)
A=0.198 (198/998, GoNL)
A=0.265 (166/626, Chileans)
A=0.142 (85/600, NorthernSweden)
G=0.375 (99/264, SGDP_PRJ)
A=0.329 (71/216, Qatari)
A=0.434 (92/212, Vietnamese)
A=0.20 (8/40, GENOME_DK)
G=0.50 (6/12, Siberian)
A=0.50 (6/12, Siberian)
A=0.2 (2/8, Ancient Sardinia)
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 75244 G=0.78256 A=0.21744
European Sub 59926 G=0.78961 A=0.21039
African Sub 5206 G=0.8125 A=0.1875
African Others Sub 180 G=0.817 A=0.183
African American Sub 5026 G=0.8124 A=0.1876
Asian Sub 240 G=0.596 A=0.404
East Asian Sub 166 G=0.633 A=0.367
Other Asian Sub 74 G=0.51 A=0.49
Latin American 1 Sub 358 G=0.760 A=0.240
Latin American 2 Sub 2510 G=0.7733 A=0.2267
South Asian Sub 4968 G=0.6906 A=0.3094
Other Sub 2036 G=0.7603 A=0.2397


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=0.787891 A=0.212109
Genographic Project Global Study-wide 205076 G=0.780008 A=0.219992
gnomAD - Genomes Global Study-wide 139966 G=0.791135 A=0.208865
gnomAD - Genomes European Sub 75820 G=0.78882 A=0.21118
gnomAD - Genomes African Sub 41926 G=0.82104 A=0.17896
gnomAD - Genomes American Sub 13634 G=0.77373 A=0.22627
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.7459 A=0.2541
gnomAD - Genomes East Asian Sub 3126 G=0.6020 A=0.3980
gnomAD - Genomes Other Sub 2142 G=0.7446 A=0.2554
Allele Frequency Aggregator Total Global 75244 G=0.78256 A=0.21744
Allele Frequency Aggregator European Sub 59926 G=0.78961 A=0.21039
Allele Frequency Aggregator African Sub 5206 G=0.8125 A=0.1875
Allele Frequency Aggregator South Asian Sub 4968 G=0.6906 A=0.3094
Allele Frequency Aggregator Latin American 2 Sub 2510 G=0.7733 A=0.2267
Allele Frequency Aggregator Other Sub 2036 G=0.7603 A=0.2397
Allele Frequency Aggregator Latin American 1 Sub 358 G=0.760 A=0.240
Allele Frequency Aggregator Asian Sub 240 G=0.596 A=0.404
14KJPN JAPANESE Study-wide 28258 G=0.61653 A=0.38347
8.3KJPN JAPANESE Study-wide 16760 G=0.61808 A=0.38192
1000Genomes_30x Global Study-wide 6404 G=0.7327 A=0.2673
1000Genomes_30x African Sub 1786 G=0.8331 A=0.1669
1000Genomes_30x Europe Sub 1266 G=0.7741 A=0.2259
1000Genomes_30x South Asian Sub 1202 G=0.6606 A=0.3394
1000Genomes_30x East Asian Sub 1170 G=0.5650 A=0.4350
1000Genomes_30x American Sub 980 G=0.785 A=0.215
1000Genomes Global Study-wide 5008 G=0.7292 A=0.2708
1000Genomes African Sub 1322 G=0.8374 A=0.1626
1000Genomes East Asian Sub 1008 G=0.5704 A=0.4296
1000Genomes Europe Sub 1006 G=0.7813 A=0.2187
1000Genomes South Asian Sub 978 G=0.653 A=0.347
1000Genomes American Sub 694 G=0.785 A=0.215
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.7826 A=0.2174
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7961 A=0.2039
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8045 A=0.1955
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.6437 A=0.3563, C=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.7169 A=0.2831
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.604 A=0.396
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.671 A=0.329
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.691 A=0.309
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.797 A=0.203
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.864 A=0.136
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.838 A=0.162
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.62 A=0.38
HapMap Global Study-wide 1880 G=0.7612 A=0.2388
HapMap American Sub 764 G=0.709 A=0.291
HapMap African Sub 688 G=0.866 A=0.134
HapMap Asian Sub 252 G=0.587 A=0.413
HapMap Europe Sub 176 G=0.824 A=0.176
Korean Genome Project KOREAN Study-wide 1832 G=0.6627 A=0.3373
Genome-wide autozygosity in Daghestan Global Study-wide 1134 G=0.7116 A=0.2884
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.712 A=0.288
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.701 A=0.299
Genome-wide autozygosity in Daghestan Central Asia Sub 120 G=0.733 A=0.267
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.741 A=0.259
Genome-wide autozygosity in Daghestan South Asian Sub 98 G=0.66 A=0.34
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.72 A=0.28
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.802 A=0.198
Chileans Chilean Study-wide 626 G=0.735 A=0.265
Northern Sweden ACPOP Study-wide 600 G=0.858 A=0.142
SGDP_PRJ Global Study-wide 264 G=0.375 A=0.625
Qatari Global Study-wide 216 G=0.671 A=0.329
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.566 A=0.434
The Danish reference pan genome Danish Study-wide 40 G=0.80 A=0.20
Siberian Global Study-wide 12 G=0.50 A=0.50
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 8 G=0.8 A=0.2
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 14 NC_000014.9:g.85032821G>A
GRCh38.p14 chr 14 NC_000014.9:g.85032821G>C
GRCh37.p13 chr 14 NC_000014.8:g.85499165G>A
GRCh37.p13 chr 14 NC_000014.8:g.85499165G>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 14 NC_000014.9:g.85032821= NC_000014.9:g.85032821G>A NC_000014.9:g.85032821G>C
GRCh37.p13 chr 14 NC_000014.8:g.85499165= NC_000014.8:g.85499165G>A NC_000014.8:g.85499165G>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#.

87 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss1247208 Oct 05, 2000 (86)
2 KWOK ss1758914 Oct 18, 2000 (87)
3 SC_JCM ss2608263 Nov 08, 2000 (89)
4 AFFY ss66340104 Nov 30, 2006 (127)
5 ILLUMINA ss66693945 Nov 30, 2006 (127)
6 ILLUMINA ss67881504 Nov 30, 2006 (127)
7 ILLUMINA ss68022313 Nov 30, 2006 (127)
8 ILLUMINA ss70975387 May 26, 2008 (130)
9 ILLUMINA ss71586945 May 17, 2007 (127)
10 ILLUMINA ss75601968 Dec 06, 2007 (129)
11 AFFY ss76043762 Dec 08, 2007 (130)
12 ILLUMINA ss79284478 Dec 16, 2007 (130)
13 HGSV ss80317115 Dec 16, 2007 (130)
14 KRIBB_YJKIM ss83581421 Dec 16, 2007 (130)
15 BGI ss103204526 Dec 01, 2009 (131)
16 ILLUMINA-UK ss118646249 Feb 14, 2009 (130)
17 ILLUMINA ss122920760 Dec 01, 2009 (131)
18 ILLUMINA ss154474483 Dec 01, 2009 (131)
19 GMI ss156069659 Dec 01, 2009 (131)
20 ILLUMINA ss159648967 Dec 01, 2009 (131)
21 AFFY ss170765984 Jul 04, 2010 (132)
22 ILLUMINA ss172411607 Jul 04, 2010 (132)
23 ILLUMINA ss174751913 Jul 04, 2010 (132)
24 BCM-HGSC-SUB ss206893020 Jul 04, 2010 (132)
25 1000GENOMES ss226691208 Jul 14, 2010 (132)
26 1000GENOMES ss236632831 Jul 15, 2010 (132)
27 1000GENOMES ss243048820 Jul 15, 2010 (132)
28 GMI ss282092525 May 04, 2012 (137)
29 GMI ss286882066 Apr 25, 2013 (138)
30 ILLUMINA ss537566000 Sep 08, 2015 (146)
31 TISHKOFF ss564236387 Apr 25, 2013 (138)
32 SSMP ss659930654 Apr 25, 2013 (138)
33 ILLUMINA ss825614996 Jul 19, 2016 (147)
34 ILLUMINA ss833159788 Aug 21, 2014 (142)
35 ILLUMINA ss833750616 Aug 21, 2014 (142)
36 EVA-GONL ss991394106 Aug 21, 2014 (142)
37 JMKIDD_LAB ss1079839696 Aug 21, 2014 (142)
38 1000GENOMES ss1351935222 Aug 21, 2014 (142)
39 HAMMER_LAB ss1397687207 Sep 08, 2015 (146)
40 DDI ss1427493626 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1577398161 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1632238376 Apr 01, 2015 (144)
43 EVA_UK10K_TWINSUK ss1675232409 Apr 01, 2015 (144)
44 EVA_DECODE ss1695403213 Apr 01, 2015 (144)
45 EVA_SVP ss1713462514 Apr 01, 2015 (144)
46 WEILL_CORNELL_DGM ss1934763137 Feb 12, 2016 (147)
47 GENOMED ss1968017028 Jul 19, 2016 (147)
48 JJLAB ss2028164976 Sep 14, 2016 (149)
49 USC_VALOUEV ss2156544765 Dec 20, 2016 (150)
50 HUMAN_LONGEVITY ss2203916897 Dec 20, 2016 (150)
51 SYSTEMSBIOZJU ss2628571223 Nov 08, 2017 (151)
52 GRF ss2700978856 Nov 08, 2017 (151)
53 GNOMAD ss2930343188 Nov 08, 2017 (151)
54 SWEGEN ss3012582061 Nov 08, 2017 (151)
55 BIOINF_KMB_FNS_UNIBA ss3027908293 Nov 08, 2017 (151)
56 CSHL ss3350915143 Nov 08, 2017 (151)
57 ILLUMINA ss3627274010 Oct 12, 2018 (152)
58 ILLUMINA ss3638064033 Oct 12, 2018 (152)
59 ILLUMINA ss3639045604 Oct 12, 2018 (152)
60 ILLUMINA ss3639527668 Oct 12, 2018 (152)
61 ILLUMINA ss3643049800 Oct 12, 2018 (152)
62 EGCUT_WGS ss3679843309 Jul 13, 2019 (153)
63 EVA_DECODE ss3697143326 Jul 13, 2019 (153)
64 ACPOP ss3740589171 Jul 13, 2019 (153)
65 EVA ss3752610867 Jul 13, 2019 (153)
66 KHV_HUMAN_GENOMES ss3817936585 Jul 13, 2019 (153)
67 EVA ss3834040150 Apr 27, 2020 (154)
68 HGDP ss3847511420 Apr 27, 2020 (154)
69 SGDP_PRJ ss3881994776 Apr 27, 2020 (154)
70 KRGDB ss3931063680 Apr 27, 2020 (154)
71 KOGIC ss3975395976 Apr 27, 2020 (154)
72 EVA ss3985694232 Apr 26, 2021 (155)
73 EVA ss4017682728 Apr 26, 2021 (155)
74 TOPMED ss4978699788 Apr 26, 2021 (155)
75 TOMMO_GENOMICS ss5214288356 Apr 26, 2021 (155)
76 1000G_HIGH_COVERAGE ss5297040027 Oct 16, 2022 (156)
77 GENOGRAPHIC ss5314562276 Oct 16, 2022 (156)
78 HUGCELL_USP ss5491008187 Oct 16, 2022 (156)
79 EVA ss5511326034 Oct 16, 2022 (156)
80 1000G_HIGH_COVERAGE ss5597734928 Oct 16, 2022 (156)
81 SANFORD_IMAGENETICS ss5656684190 Oct 16, 2022 (156)
82 TOMMO_GENOMICS ss5767396869 Oct 16, 2022 (156)
83 YY_MCH ss5814954619 Oct 16, 2022 (156)
84 EVA ss5841434598 Oct 16, 2022 (156)
85 EVA ss5851135282 Oct 16, 2022 (156)
86 EVA ss5902282588 Oct 16, 2022 (156)
87 EVA ss5948141414 Oct 16, 2022 (156)
88 1000Genomes NC_000014.8 - 85499165 Oct 12, 2018 (152)
89 1000Genomes_30x NC_000014.9 - 85032821 Oct 16, 2022 (156)
90 The Avon Longitudinal Study of Parents and Children NC_000014.8 - 85499165 Oct 12, 2018 (152)
91 Chileans NC_000014.8 - 85499165 Apr 27, 2020 (154)
92 Genome-wide autozygosity in Daghestan NC_000014.7 - 84568918 Apr 27, 2020 (154)
93 Genetic variation in the Estonian population NC_000014.8 - 85499165 Oct 12, 2018 (152)
94 Genographic Project NC_000014.9 - 85032821 Oct 16, 2022 (156)
95 The Danish reference pan genome NC_000014.8 - 85499165 Apr 27, 2020 (154)
96 gnomAD - Genomes NC_000014.9 - 85032821 Apr 26, 2021 (155)
97 Genome of the Netherlands Release 5 NC_000014.8 - 85499165 Apr 27, 2020 (154)
98 HGDP-CEPH-db Supplement 1 NC_000014.7 - 84568918 Apr 27, 2020 (154)
99 HapMap NC_000014.9 - 85032821 Apr 27, 2020 (154)
100 KOREAN population from KRGDB NC_000014.8 - 85499165 Apr 27, 2020 (154)
101 Korean Genome Project NC_000014.9 - 85032821 Apr 27, 2020 (154)
102 Northern Sweden NC_000014.8 - 85499165 Jul 13, 2019 (153)
103 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000014.8 - 85499165 Apr 26, 2021 (155)
104 Qatari NC_000014.8 - 85499165 Apr 27, 2020 (154)
105 SGDP_PRJ NC_000014.8 - 85499165 Apr 27, 2020 (154)
106 Siberian NC_000014.8 - 85499165 Apr 27, 2020 (154)
107 8.3KJPN NC_000014.8 - 85499165 Apr 26, 2021 (155)
108 14KJPN NC_000014.9 - 85032821 Oct 16, 2022 (156)
109 TopMed NC_000014.9 - 85032821 Apr 26, 2021 (155)
110 UK 10K study - Twins NC_000014.8 - 85499165 Oct 12, 2018 (152)
111 A Vietnamese Genetic Variation Database NC_000014.8 - 85499165 Jul 13, 2019 (153)
112 ALFA NC_000014.9 - 85032821 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)
rs56523304 May 26, 2008 (130)
rs61451913 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
157488, 189312, ss66340104, ss76043762, ss80317115, ss118646249, ss170765984, ss206893020, ss282092525, ss286882066, ss825614996, ss1397687207, ss1695403213, ss1713462514, ss3639045604, ss3639527668, ss3643049800, ss3847511420 NC_000014.7:84568917:G:A NC_000014.9:85032820:G:A (self)
64951234, 36098119, 143933, 25581557, 3700942, 16118429, 38241074, 13874036, 920159, 16805067, 34011756, 9061119, 72257663, 36098119, 8029902, ss226691208, ss236632831, ss243048820, ss537566000, ss564236387, ss659930654, ss833159788, ss833750616, ss991394106, ss1079839696, ss1351935222, ss1427493626, ss1577398161, ss1632238376, ss1675232409, ss1934763137, ss1968017028, ss2028164976, ss2156544765, ss2628571223, ss2700978856, ss2930343188, ss3012582061, ss3350915143, ss3627274010, ss3638064033, ss3679843309, ss3740589171, ss3752610867, ss3834040150, ss3881994776, ss3931063680, ss3985694232, ss4017682728, ss5214288356, ss5511326034, ss5656684190, ss5841434598, ss5948141414 NC_000014.8:85499164:G:A NC_000014.9:85032820:G:A (self)
85260863, 93325, 457935433, 1191957, 31773977, 101233973, 194245447, 11745310529, ss2203916897, ss3027908293, ss3697143326, ss3817936585, ss3975395976, ss4978699788, ss5297040027, ss5314562276, ss5491008187, ss5597734928, ss5767396869, ss5814954619, ss5851135282, ss5902282588 NC_000014.9:85032820:G:A NC_000014.9:85032820:G:A (self)
ss1247208, ss1758914, ss2608263, ss66693945, ss67881504, ss68022313, ss70975387, ss71586945, ss75601968, ss79284478, ss83581421, ss103204526, ss122920760, ss154474483, ss156069659, ss159648967, ss172411607, ss174751913 NT_026437.12:66499164:G:A NC_000014.9:85032820:G:A (self)
38241074, ss3931063680 NC_000014.8:85499164:G:C NC_000014.9:85032820: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 rs856627

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