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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.

rs12745722

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:157623613 (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
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.288194 (76282/264690, TOPMED)
A=0.287096 (40236/140148, GnomAD)
A=0.24042 (17166/71400, ALFA) (+ 20 more)
A=0.09860 (2786/28256, 14KJPN)
A=0.09893 (1658/16760, 8.3KJPN)
A=0.2536 (1624/6404, 1000G_30x)
A=0.2490 (1247/5008, 1000G)
A=0.1833 (821/4480, Estonian)
A=0.2457 (947/3854, ALSPAC)
A=0.2608 (967/3708, TWINSUK)
A=0.1048 (307/2930, KOREAN)
A=0.1899 (392/2064, HGDP_Stanford)
A=0.2844 (538/1892, HapMap)
A=0.1135 (208/1832, Korea1K)
A=0.257 (256/998, GoNL)
A=0.272 (163/600, NorthernSweden)
A=0.222 (48/216, Qatari)
A=0.074 (16/216, Vietnamese)
G=0.393 (70/178, SGDP_PRJ)
A=0.16 (10/64, Ancient Sardinia)
A=0.35 (14/40, GENOME_DK)
G=0.5 (4/8, Siberian)
A=0.5 (4/8, 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 71400 G=0.75958 A=0.24042
European Sub 58772 G=0.76684 A=0.23316
African Sub 4526 G=0.5826 A=0.4174
African Others Sub 170 G=0.582 A=0.418
African American Sub 4356 G=0.5826 A=0.4174
Asian Sub 190 G=0.911 A=0.089
East Asian Sub 148 G=0.919 A=0.081
Other Asian Sub 42 G=0.88 A=0.12
Latin American 1 Sub 254 G=0.772 A=0.228
Latin American 2 Sub 1232 G=0.7873 A=0.2127
South Asian Sub 4956 G=0.8271 A=0.1729
Other Sub 1470 G=0.7415 A=0.2585


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=0.711806 A=0.288194
gnomAD - Genomes Global Study-wide 140148 G=0.712904 A=0.287096
gnomAD - Genomes European Sub 75940 G=0.77025 A=0.22975
gnomAD - Genomes African Sub 41966 G=0.57637 A=0.42363
gnomAD - Genomes American Sub 13634 G=0.77527 A=0.22473
gnomAD - Genomes Ashkenazi Jewish Sub 3324 G=0.6968 A=0.3032
gnomAD - Genomes East Asian Sub 3132 G=0.8780 A=0.1220
gnomAD - Genomes Other Sub 2152 G=0.7412 A=0.2588
Allele Frequency Aggregator Total Global 71400 G=0.75958 A=0.24042
Allele Frequency Aggregator European Sub 58772 G=0.76684 A=0.23316
Allele Frequency Aggregator South Asian Sub 4956 G=0.8271 A=0.1729
Allele Frequency Aggregator African Sub 4526 G=0.5826 A=0.4174
Allele Frequency Aggregator Other Sub 1470 G=0.7415 A=0.2585
Allele Frequency Aggregator Latin American 2 Sub 1232 G=0.7873 A=0.2127
Allele Frequency Aggregator Latin American 1 Sub 254 G=0.772 A=0.228
Allele Frequency Aggregator Asian Sub 190 G=0.911 A=0.089
14KJPN JAPANESE Study-wide 28256 G=0.90140 A=0.09860
8.3KJPN JAPANESE Study-wide 16760 G=0.90107 A=0.09893
1000Genomes_30x Global Study-wide 6404 G=0.7464 A=0.2536
1000Genomes_30x African Sub 1786 G=0.5375 A=0.4625
1000Genomes_30x Europe Sub 1266 G=0.7662 A=0.2338
1000Genomes_30x South Asian Sub 1202 G=0.8486 A=0.1514
1000Genomes_30x East Asian Sub 1170 G=0.8897 A=0.1103
1000Genomes_30x American Sub 980 G=0.805 A=0.195
1000Genomes Global Study-wide 5008 G=0.7510 A=0.2490
1000Genomes African Sub 1322 G=0.5378 A=0.4622
1000Genomes East Asian Sub 1008 G=0.8889 A=0.1111
1000Genomes Europe Sub 1006 G=0.7684 A=0.2316
1000Genomes South Asian Sub 978 G=0.840 A=0.160
1000Genomes American Sub 694 G=0.805 A=0.195
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8167 A=0.1833
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.7543 A=0.2457
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.7392 A=0.2608
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.8952 A=0.1048
HGDP-CEPH-db Supplement 1 Global Study-wide 2064 G=0.8101 A=0.1899
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.917 A=0.083
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.790 A=0.210
HGDP-CEPH-db Supplement 1 Middle_Est Sub 342 G=0.731 A=0.269
HGDP-CEPH-db Supplement 1 Europe Sub 318 G=0.789 A=0.211
HGDP-CEPH-db Supplement 1 Africa Sub 236 G=0.636 A=0.364
HGDP-CEPH-db Supplement 1 America Sub 214 G=0.907 A=0.093
HGDP-CEPH-db Supplement 1 Oceania Sub 70 G=0.99 A=0.01
HapMap Global Study-wide 1892 G=0.7156 A=0.2844
HapMap American Sub 770 G=0.761 A=0.239
HapMap African Sub 692 G=0.585 A=0.415
HapMap Asian Sub 254 G=0.894 A=0.106
HapMap Europe Sub 176 G=0.773 A=0.227
Korean Genome Project KOREAN Study-wide 1832 G=0.8865 A=0.1135
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.743 A=0.257
Northern Sweden ACPOP Study-wide 600 G=0.728 A=0.272
Qatari Global Study-wide 216 G=0.778 A=0.222
A Vietnamese Genetic Variation Database Global Study-wide 216 G=0.926 A=0.074
SGDP_PRJ Global Study-wide 178 G=0.393 A=0.607
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 64 G=0.84 A=0.16
The Danish reference pan genome Danish Study-wide 40 G=0.65 A=0.35
Siberian Global Study-wide 8 G=0.5 A=0.5
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 1 NC_000001.11:g.157623613G>A
GRCh37.p13 chr 1 NC_000001.10:g.157593403G>A
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
GRCh38.p14 chr 1 NC_000001.11:g.157623613= NC_000001.11:g.157623613G>A
GRCh37.p13 chr 1 NC_000001.10:g.157593403= NC_000001.10:g.157593403G>A
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#.

89 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 SSAHASNP ss20540212 Apr 05, 2004 (121)
2 ABI ss43812462 Mar 14, 2006 (126)
3 ILLUMINA ss67037340 Nov 29, 2006 (127)
4 ILLUMINA ss67361405 Nov 29, 2006 (127)
5 ILLUMINA ss68138255 Dec 12, 2006 (127)
6 ILLUMINA ss70583772 May 24, 2008 (130)
7 ILLUMINA ss71126410 May 16, 2007 (127)
8 ILLUMINA ss75522526 Dec 07, 2007 (129)
9 HGSV ss77350877 Dec 07, 2007 (129)
10 HGSV ss81364012 Dec 14, 2007 (130)
11 KRIBB_YJKIM ss85269624 Dec 14, 2007 (130)
12 HUMANGENOME_JCVI ss97976220 Feb 04, 2009 (130)
13 BGI ss106603152 Feb 04, 2009 (130)
14 1000GENOMES ss108613634 Jan 23, 2009 (130)
15 1000GENOMES ss111182468 Jan 25, 2009 (130)
16 ILLUMINA-UK ss119040279 Feb 15, 2009 (130)
17 ENSEMBL ss139205025 Dec 01, 2009 (131)
18 ILLUMINA ss153277628 Dec 01, 2009 (131)
19 ILLUMINA ss159233557 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss164161416 Jul 04, 2010 (132)
21 COMPLETE_GENOMICS ss165254432 Jul 04, 2010 (132)
22 ILLUMINA ss172237871 Jul 04, 2010 (132)
23 1000GENOMES ss218660492 Jul 14, 2010 (132)
24 1000GENOMES ss230738508 Jul 14, 2010 (132)
25 1000GENOMES ss238384948 Jul 15, 2010 (132)
26 GMI ss276057972 May 04, 2012 (137)
27 PJP ss290640634 May 09, 2011 (134)
28 ILLUMINA ss536811958 Sep 08, 2015 (146)
29 TISHKOFF ss554729765 Apr 25, 2013 (138)
30 SSMP ss648426400 Apr 25, 2013 (138)
31 ILLUMINA ss832745894 Jul 12, 2019 (153)
32 EVA-GONL ss975702476 Aug 21, 2014 (142)
33 JMKIDD_LAB ss1068282498 Aug 21, 2014 (142)
34 1000GENOMES ss1293005989 Aug 21, 2014 (142)
35 DDI ss1425983937 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1574403625 Apr 01, 2015 (144)
37 EVA_DECODE ss1585085022 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1601255635 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1644249668 Apr 01, 2015 (144)
40 EVA_SVP ss1712372448 Apr 01, 2015 (144)
41 HAMMER_LAB ss1795117405 Sep 08, 2015 (146)
42 WEILL_CORNELL_DGM ss1918936640 Feb 12, 2016 (147)
43 GENOMED ss1966871337 Jul 19, 2016 (147)
44 JJLAB ss2019983277 Sep 14, 2016 (149)
45 USC_VALOUEV ss2148009540 Dec 20, 2016 (150)
46 HUMAN_LONGEVITY ss2166704492 Dec 20, 2016 (150)
47 GRF ss2697982559 Nov 08, 2017 (151)
48 GNOMAD ss2761556406 Nov 08, 2017 (151)
49 SWEGEN ss2987785461 Nov 08, 2017 (151)
50 BIOINF_KMB_FNS_UNIBA ss3023748539 Nov 08, 2017 (151)
51 CSHL ss3343718926 Nov 08, 2017 (151)
52 ILLUMINA ss3626213988 Oct 11, 2018 (152)
53 ILLUMINA ss3637788905 Oct 11, 2018 (152)
54 ILLUMINA ss3638911027 Oct 11, 2018 (152)
55 ILLUMINA ss3639767559 Oct 11, 2018 (152)
56 ILLUMINA ss3642798045 Oct 11, 2018 (152)
57 ILLUMINA ss3643820968 Oct 11, 2018 (152)
58 URBANLAB ss3646795114 Oct 11, 2018 (152)
59 EGCUT_WGS ss3655725014 Jul 12, 2019 (153)
60 EVA_DECODE ss3687823126 Jul 12, 2019 (153)
61 ACPOP ss3727501821 Jul 12, 2019 (153)
62 EVA ss3746832160 Jul 12, 2019 (153)
63 PACBIO ss3783571708 Jul 12, 2019 (153)
64 PACBIO ss3789202063 Jul 12, 2019 (153)
65 PACBIO ss3794074073 Jul 12, 2019 (153)
66 KHV_HUMAN_GENOMES ss3799831743 Jul 12, 2019 (153)
67 EVA ss3826434158 Apr 25, 2020 (154)
68 EVA ss3836611450 Apr 25, 2020 (154)
69 EVA ss3842020782 Apr 25, 2020 (154)
70 HGDP ss3847350018 Apr 25, 2020 (154)
71 SGDP_PRJ ss3850046641 Apr 25, 2020 (154)
72 KRGDB ss3895264838 Apr 25, 2020 (154)
73 KOGIC ss3945697595 Apr 25, 2020 (154)
74 EVA ss3984826533 Apr 25, 2021 (155)
75 EVA ss4016939333 Apr 25, 2021 (155)
76 TOPMED ss4469039857 Apr 25, 2021 (155)
77 TOMMO_GENOMICS ss5146582782 Apr 25, 2021 (155)
78 1000G_HIGH_COVERAGE ss5244363310 Oct 12, 2022 (156)
79 EVA ss5322178195 Oct 12, 2022 (156)
80 HUGCELL_USP ss5444948220 Oct 12, 2022 (156)
81 EVA ss5506035055 Oct 12, 2022 (156)
82 1000G_HIGH_COVERAGE ss5517726443 Oct 12, 2022 (156)
83 SANFORD_IMAGENETICS ss5626629850 Oct 12, 2022 (156)
84 TOMMO_GENOMICS ss5673811481 Oct 12, 2022 (156)
85 YY_MCH ss5801276775 Oct 12, 2022 (156)
86 EVA ss5832692439 Oct 12, 2022 (156)
87 EVA ss5849115757 Oct 12, 2022 (156)
88 EVA ss5910325331 Oct 12, 2022 (156)
89 EVA ss5938424913 Oct 12, 2022 (156)
90 1000Genomes NC_000001.10 - 157593403 Oct 11, 2018 (152)
91 1000Genomes_30x NC_000001.11 - 157623613 Oct 12, 2022 (156)
92 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 157593403 Oct 11, 2018 (152)
93 Genetic variation in the Estonian population NC_000001.10 - 157593403 Oct 11, 2018 (152)
94 The Danish reference pan genome NC_000001.10 - 157593403 Apr 25, 2020 (154)
95 gnomAD - Genomes NC_000001.11 - 157623613 Apr 25, 2021 (155)
96 Genome of the Netherlands Release 5 NC_000001.10 - 157593403 Apr 25, 2020 (154)
97 HGDP-CEPH-db Supplement 1 NC_000001.9 - 155860027 Apr 25, 2020 (154)
98 HapMap NC_000001.11 - 157623613 Apr 25, 2020 (154)
99 KOREAN population from KRGDB NC_000001.10 - 157593403 Apr 25, 2020 (154)
100 Korean Genome Project NC_000001.11 - 157623613 Apr 25, 2020 (154)
101 Northern Sweden NC_000001.10 - 157593403 Jul 12, 2019 (153)
102 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 157593403 Apr 25, 2021 (155)
103 Qatari NC_000001.10 - 157593403 Apr 25, 2020 (154)
104 SGDP_PRJ NC_000001.10 - 157593403 Apr 25, 2020 (154)
105 Siberian NC_000001.10 - 157593403 Apr 25, 2020 (154)
106 8.3KJPN NC_000001.10 - 157593403 Apr 25, 2021 (155)
107 14KJPN NC_000001.11 - 157623613 Oct 12, 2022 (156)
108 TopMed NC_000001.11 - 157623613 Apr 25, 2021 (155)
109 UK 10K study - Twins NC_000001.10 - 157593403 Oct 11, 2018 (152)
110 A Vietnamese Genetic Variation Database NC_000001.10 - 157593403 Jul 12, 2019 (153)
111 ALFA NC_000001.11 - 157623613 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)
rs57778799 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss77350877, ss81364012, ss3638911027, ss3639767559, ss3643820968 NC_000001.8:154406475:G:A NC_000001.11:157623612:G:A (self)
27910, ss108613634, ss111182468, ss119040279, ss164161416, ss165254432, ss276057972, ss290640634, ss1585085022, ss1712372448, ss3642798045, ss3847350018 NC_000001.9:155860026:G:A NC_000001.11:157623612:G:A (self)
3800753, 2067168, 1463262, 1715299, 896965, 2442232, 786686, 52460, 978570, 2063621, 525894, 4552089, 2067168, 442836, ss218660492, ss230738508, ss238384948, ss536811958, ss554729765, ss648426400, ss832745894, ss975702476, ss1068282498, ss1293005989, ss1425983937, ss1574403625, ss1601255635, ss1644249668, ss1795117405, ss1918936640, ss1966871337, ss2019983277, ss2148009540, ss2697982559, ss2761556406, ss2987785461, ss3343718926, ss3626213988, ss3637788905, ss3655725014, ss3727501821, ss3746832160, ss3783571708, ss3789202063, ss3794074073, ss3826434158, ss3836611450, ss3850046641, ss3895264838, ss3984826533, ss4016939333, ss5146582782, ss5322178195, ss5506035055, ss5626629850, ss5832692439, ss5938424913 NC_000001.10:157593402:G:A NC_000001.11:157623612:G:A (self)
5252378, 27667406, 180119, 2075596, 7648585, 32646192, 6530693055, ss2166704492, ss3023748539, ss3646795114, ss3687823126, ss3799831743, ss3842020782, ss3945697595, ss4469039857, ss5244363310, ss5444948220, ss5517726443, ss5673811481, ss5801276775, ss5849115757, ss5910325331 NC_000001.11:157623612:G:A NC_000001.11:157623612:G:A (self)
ss43812462, ss67037340, ss67361405, ss68138255, ss70583772, ss71126410, ss75522526, ss85269624, ss97976220, ss106603152, ss139205025, ss153277628, ss159233557, ss172237871 NT_004487.19:9082044:G:A NC_000001.11:157623612:G:A (self)
ss20540212 NT_079484.1:4043234:G:A NC_000001.11:157623612:G:A (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 rs12745722

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