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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.

rs1351696

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr11:48360919 (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
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.184000 (48703/264690, TOPMED)
A=0.187008 (26186/140026, GnomAD)
A=0.14142 (11223/79358, ALFA) (+ 14 more)
A=0.20391 (16040/78664, PAGE_STUDY)
A=0.16076 (4542/28254, 14KJPN)
A=0.15994 (2680/16756, 8.3KJPN)
A=0.1875 (1201/6404, 1000G_30x)
A=0.1837 (920/5008, 1000G)
A=0.1526 (447/2930, KOREAN)
A=0.1457 (267/1832, Korea1K)
A=0.144 (111/772, PRJEB37584)
A=0.132 (79/600, NorthernSweden)
A=0.131 (72/550, SGDP_PRJ)
A=0.213 (70/328, HapMap)
A=0.134 (29/216, Qatari)
A=0.03 (2/68, Ancient Sardinia)
A=0.14 (8/56, Siberian)
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 79452 A=0.14138 G=0.85862, T=0.00000
European Sub 71266 A=0.13410 G=0.86590, T=0.00000
African Sub 3060 A=0.3000 G=0.7000, T=0.0000
African Others Sub 92 A=0.30 G=0.70, T=0.00
African American Sub 2968 A=0.2999 G=0.7001, T=0.0000
Asian Sub 176 A=0.114 G=0.886, T=0.000
East Asian Sub 124 A=0.121 G=0.879, T=0.000
Other Asian Sub 52 A=0.10 G=0.90, T=0.00
Latin American 1 Sub 152 A=0.145 G=0.855, T=0.000
Latin American 2 Sub 632 A=0.125 G=0.875, T=0.000
South Asian Sub 104 A=0.173 G=0.827, T=0.000
Other Sub 4062 A=0.1524 G=0.8476, T=0.0000


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 A=0.184000 G=0.816000
gnomAD - Genomes Global Study-wide 140026 A=0.187008 G=0.812992
gnomAD - Genomes European Sub 75854 A=0.14366 G=0.85634
gnomAD - Genomes African Sub 41932 A=0.29123 G=0.70877
gnomAD - Genomes American Sub 13640 A=0.13438 G=0.86562
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.1086 G=0.8914
gnomAD - Genomes East Asian Sub 3124 A=0.1719 G=0.8281
gnomAD - Genomes Other Sub 2152 A=0.1608 G=0.8392
Allele Frequency Aggregator Total Global 79358 A=0.14142 G=0.85858, T=0.00000
Allele Frequency Aggregator European Sub 71190 A=0.13413 G=0.86587, T=0.00000
Allele Frequency Aggregator Other Sub 4044 A=0.1526 G=0.8474, T=0.0000
Allele Frequency Aggregator African Sub 3060 A=0.3000 G=0.7000, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 632 A=0.125 G=0.875, T=0.000
Allele Frequency Aggregator Asian Sub 176 A=0.114 G=0.886, T=0.000
Allele Frequency Aggregator Latin American 1 Sub 152 A=0.145 G=0.855, T=0.000
Allele Frequency Aggregator South Asian Sub 104 A=0.173 G=0.827, T=0.000
The PAGE Study Global Study-wide 78664 A=0.20391 G=0.79609
The PAGE Study AfricanAmerican Sub 32500 A=0.28237 G=0.71763
The PAGE Study Mexican Sub 10806 A=0.12993 G=0.87007
The PAGE Study Asian Sub 8312 A=0.1666 G=0.8334
The PAGE Study PuertoRican Sub 7914 A=0.1765 G=0.8235
The PAGE Study NativeHawaiian Sub 4532 A=0.1211 G=0.8789
The PAGE Study Cuban Sub 4230 A=0.1248 G=0.8752
The PAGE Study Dominican Sub 3824 A=0.1729 G=0.8271
The PAGE Study CentralAmerican Sub 2448 A=0.1573 G=0.8427
The PAGE Study SouthAmerican Sub 1982 A=0.1246 G=0.8754
The PAGE Study NativeAmerican Sub 1260 A=0.1460 G=0.8540
The PAGE Study SouthAsian Sub 856 A=0.144 G=0.856
14KJPN JAPANESE Study-wide 28254 A=0.16076 G=0.83924
8.3KJPN JAPANESE Study-wide 16756 A=0.15994 G=0.84006
1000Genomes_30x Global Study-wide 6404 A=0.1875 G=0.8125
1000Genomes_30x African Sub 1786 A=0.3270 G=0.6730
1000Genomes_30x Europe Sub 1266 A=0.1295 G=0.8705
1000Genomes_30x South Asian Sub 1202 A=0.1215 G=0.8785
1000Genomes_30x East Asian Sub 1170 A=0.1607 G=0.8393
1000Genomes_30x American Sub 980 A=0.121 G=0.879
1000Genomes Global Study-wide 5008 A=0.1837 G=0.8163
1000Genomes African Sub 1322 A=0.3200 G=0.6800
1000Genomes East Asian Sub 1008 A=0.1627 G=0.8373
1000Genomes Europe Sub 1006 A=0.1252 G=0.8748
1000Genomes South Asian Sub 978 A=0.122 G=0.878
1000Genomes American Sub 694 A=0.127 G=0.873
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.1526 G=0.8474
Korean Genome Project KOREAN Study-wide 1832 A=0.1457 G=0.8543
CNV burdens in cranial meningiomas Global Study-wide 772 A=0.144 G=0.856
CNV burdens in cranial meningiomas CRM Sub 772 A=0.144 G=0.856
Northern Sweden ACPOP Study-wide 600 A=0.132 G=0.868
SGDP_PRJ Global Study-wide 550 A=0.131 G=0.869
HapMap Global Study-wide 328 A=0.213 G=0.787
HapMap African Sub 120 A=0.333 G=0.667
HapMap American Sub 120 A=0.117 G=0.883
HapMap Asian Sub 88 A=0.18 G=0.82
Qatari Global Study-wide 216 A=0.134 G=0.866
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 68 A=0.03 G=0.97
Siberian Global Study-wide 56 A=0.14 G=0.86
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 11 NC_000011.10:g.48360919A>G
GRCh38.p14 chr 11 NC_000011.10:g.48360919A>T
GRCh37.p13 chr 11 NC_000011.9:g.48382471A>G
GRCh37.p13 chr 11 NC_000011.9:g.48382471A>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
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 A= G T
GRCh38.p14 chr 11 NC_000011.10:g.48360919= NC_000011.10:g.48360919A>G NC_000011.10:g.48360919A>T
GRCh37.p13 chr 11 NC_000011.9:g.48382471= NC_000011.9:g.48382471A>G NC_000011.9:g.48382471A>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#.

93 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss2131267 Oct 23, 2000 (88)
2 SC_JCM ss5770155 Feb 20, 2003 (111)
3 SC_SNP ss16016270 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss19926097 Feb 27, 2004 (120)
5 SSAHASNP ss20798677 Apr 05, 2004 (121)
6 HGSV ss78732680 Dec 06, 2007 (129)
7 HGSV ss84220273 Dec 15, 2007 (130)
8 HGSV ss86107347 Dec 15, 2007 (130)
9 BCMHGSC_JDW ss88572264 Mar 24, 2008 (129)
10 HUMANGENOME_JCVI ss97385890 Feb 06, 2009 (130)
11 ILLUMINA-UK ss119836326 Dec 01, 2009 (131)
12 ENSEMBL ss132497789 Dec 01, 2009 (131)
13 ENSEMBL ss137711121 Dec 01, 2009 (131)
14 GMI ss156268023 Dec 01, 2009 (131)
15 COMPLETE_GENOMICS ss168364464 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss169888253 Jul 04, 2010 (132)
17 COMPLETE_GENOMICS ss175134607 Jul 04, 2010 (132)
18 BUSHMAN ss202691883 Jul 04, 2010 (132)
19 BCM-HGSC-SUB ss207490812 Jul 04, 2010 (132)
20 BL ss255115726 May 09, 2011 (134)
21 GMI ss280994452 May 04, 2012 (137)
22 GMI ss286370963 Apr 25, 2013 (138)
23 PJP ss291041127 May 09, 2011 (134)
24 EXOME_CHIP ss491450035 May 04, 2012 (137)
25 TISHKOFF ss562557582 Apr 25, 2013 (138)
26 ILLUMINA ss780681835 Sep 08, 2015 (146)
27 ILLUMINA ss783355167 Sep 08, 2015 (146)
28 1000GENOMES ss1341194316 Aug 21, 2014 (142)
29 DDI ss1426627868 Apr 01, 2015 (144)
30 ILLUMINA ss1752019736 Sep 08, 2015 (146)
31 HAMMER_LAB ss1806816008 Sep 08, 2015 (146)
32 ILLUMINA ss1917859136 Feb 12, 2016 (147)
33 WEILL_CORNELL_DGM ss1931859481 Feb 12, 2016 (147)
34 ILLUMINA ss1946309393 Feb 12, 2016 (147)
35 ILLUMINA ss1959347795 Feb 12, 2016 (147)
36 ILLUMINA ss1959347796 Feb 12, 2016 (147)
37 GENOMED ss1967362443 Jul 19, 2016 (147)
38 USC_VALOUEV ss2154971085 Dec 20, 2016 (150)
39 SYSTEMSBIOZJU ss2627812589 Nov 08, 2017 (151)
40 ILLUMINA ss2632834970 Nov 08, 2017 (151)
41 ILLUMINA ss2632834971 Nov 08, 2017 (151)
42 GRF ss2699255087 Nov 08, 2017 (151)
43 GNOMAD ss2899372838 Nov 08, 2017 (151)
44 AFFY ss2984941719 Nov 08, 2017 (151)
45 SWEGEN ss3008040749 Nov 08, 2017 (151)
46 ILLUMINA ss3021334100 Nov 08, 2017 (151)
47 ILLUMINA ss3021334101 Nov 08, 2017 (151)
48 CSHL ss3349583766 Nov 08, 2017 (151)
49 ILLUMINA ss3626658139 Oct 12, 2018 (152)
50 ILLUMINA ss3634453802 Oct 12, 2018 (152)
51 ILLUMINA ss3640161141 Oct 12, 2018 (152)
52 ILLUMINA ss3644562226 Oct 12, 2018 (152)
53 URBANLAB ss3649601367 Oct 12, 2018 (152)
54 ILLUMINA ss3651697951 Oct 12, 2018 (152)
55 ILLUMINA ss3651697952 Oct 12, 2018 (152)
56 ILLUMINA ss3653713986 Oct 12, 2018 (152)
57 EVA_DECODE ss3691747993 Jul 13, 2019 (153)
58 ILLUMINA ss3725239674 Jul 13, 2019 (153)
59 ACPOP ss3738163443 Jul 13, 2019 (153)
60 ILLUMINA ss3744379776 Jul 13, 2019 (153)
61 ILLUMINA ss3744754669 Jul 13, 2019 (153)
62 EVA ss3749275338 Jul 13, 2019 (153)
63 PAGE_CC ss3771623759 Jul 13, 2019 (153)
64 ILLUMINA ss3772254676 Jul 13, 2019 (153)
65 PACBIO ss3786949260 Jul 13, 2019 (153)
66 PACBIO ss3792091968 Jul 13, 2019 (153)
67 PACBIO ss3796974202 Jul 13, 2019 (153)
68 KHV_HUMAN_GENOMES ss3814621646 Jul 13, 2019 (153)
69 EVA ss3832620157 Apr 26, 2020 (154)
70 EVA ss3839861531 Apr 26, 2020 (154)
71 EVA ss3845339816 Apr 26, 2020 (154)
72 SGDP_PRJ ss3876208550 Apr 26, 2020 (154)
73 KRGDB ss3924491712 Apr 26, 2020 (154)
74 KOGIC ss3969736451 Apr 26, 2020 (154)
75 EVA ss3984650507 Apr 26, 2021 (155)
76 EVA ss3985534956 Apr 26, 2021 (155)
77 TOPMED ss4884619326 Apr 26, 2021 (155)
78 TOMMO_GENOMICS ss5201886200 Apr 26, 2021 (155)
79 1000G_HIGH_COVERAGE ss5287338927 Oct 16, 2022 (156)
80 EVA ss5315546910 Oct 16, 2022 (156)
81 EVA ss5399458987 Oct 16, 2022 (156)
82 HUGCELL_USP ss5482549611 Oct 16, 2022 (156)
83 EVA ss5510356396 Oct 16, 2022 (156)
84 1000G_HIGH_COVERAGE ss5582961452 Oct 16, 2022 (156)
85 SANFORD_IMAGENETICS ss5624274856 Oct 16, 2022 (156)
86 SANFORD_IMAGENETICS ss5651179795 Oct 16, 2022 (156)
87 TOMMO_GENOMICS ss5748985156 Oct 16, 2022 (156)
88 YY_MCH ss5812365867 Oct 16, 2022 (156)
89 EVA ss5836633456 Oct 16, 2022 (156)
90 EVA ss5849975279 Oct 16, 2022 (156)
91 EVA ss5919909787 Oct 16, 2022 (156)
92 EVA ss5942500343 Oct 16, 2022 (156)
93 EVA ss5980676333 Oct 16, 2022 (156)
94 1000Genomes NC_000011.9 - 48382471 Oct 12, 2018 (152)
95 1000Genomes_30x NC_000011.10 - 48360919 Oct 16, 2022 (156)
96 gnomAD - Genomes NC_000011.10 - 48360919 Apr 26, 2021 (155)
97 HapMap NC_000011.10 - 48360919 Apr 26, 2020 (154)
98 KOREAN population from KRGDB NC_000011.9 - 48382471 Apr 26, 2020 (154)
99 Korean Genome Project NC_000011.10 - 48360919 Apr 26, 2020 (154)
100 Northern Sweden NC_000011.9 - 48382471 Jul 13, 2019 (153)
101 The PAGE Study NC_000011.10 - 48360919 Jul 13, 2019 (153)
102 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000011.9 - 48382471 Apr 26, 2021 (155)
103 CNV burdens in cranial meningiomas NC_000011.9 - 48382471 Apr 26, 2021 (155)
104 Qatari NC_000011.9 - 48382471 Apr 26, 2020 (154)
105 SGDP_PRJ NC_000011.9 - 48382471 Apr 26, 2020 (154)
106 Siberian NC_000011.9 - 48382471 Apr 26, 2020 (154)
107 8.3KJPN NC_000011.9 - 48382471 Apr 26, 2021 (155)
108 14KJPN NC_000011.10 - 48360919 Oct 16, 2022 (156)
109 TopMed NC_000011.10 - 48360919 Apr 26, 2021 (155)
110 ALFA NC_000011.10 - 48360919 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)
rs60989906 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78732680, ss84220273, ss86107347, ss88572264, ss119836326, ss168364464, ss169888253, ss175134607, ss202691883, ss207490812, ss255115726, ss280994452, ss286370963, ss291041127 NC_000011.8:48339046:A:G NC_000011.10:48360918:A:G (self)
53716472, 31669106, 11448308, 760883, 199982, 13901411, 28225530, 7487439, 59855507, ss491450035, ss562557582, ss780681835, ss783355167, ss1341194316, ss1426627868, ss1752019736, ss1806816008, ss1917859136, ss1931859481, ss1946309393, ss1959347795, ss1959347796, ss1967362443, ss2154971085, ss2627812589, ss2632834970, ss2632834971, ss2699255087, ss2899372838, ss2984941719, ss3008040749, ss3021334100, ss3021334101, ss3349583766, ss3626658139, ss3634453802, ss3640161141, ss3644562226, ss3651697951, ss3651697952, ss3653713986, ss3738163443, ss3744379776, ss3744754669, ss3749275338, ss3772254676, ss3786949260, ss3792091968, ss3796974202, ss3832620157, ss3839861531, ss3876208550, ss3924491712, ss3984650507, ss3985534956, ss5201886200, ss5315546910, ss5399458987, ss5510356396, ss5624274856, ss5651179795, ss5836633456, ss5942500343, ss5980676333 NC_000011.9:48382470:A:G NC_000011.10:48360918:A:G (self)
70487387, 379135676, 611522, 26114452, 845228, 82822260, 100164982, 6581401755, ss3649601367, ss3691747993, ss3725239674, ss3771623759, ss3814621646, ss3845339816, ss3969736451, ss4884619326, ss5287338927, ss5482549611, ss5582961452, ss5748985156, ss5812365867, ss5849975279, ss5919909787 NC_000011.10:48360918:A:G NC_000011.10:48360918:A:G (self)
ss16016270, ss19926097, ss20798677 NT_009237.16:47146410:A:G NC_000011.10:48360918:A:G (self)
ss2131267, ss5770155, ss97385890, ss132497789, ss137711121, ss156268023 NT_009237.18:48322470:A:G NC_000011.10:48360918:A:G (self)
6581401755 NC_000011.10:48360918:A:T NC_000011.10:48360918:A: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 rs1351696

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