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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.

rs11943045

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:37071124 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.265647 (70314/264690, TOPMED)
C=0.115089 (22749/197664, ALFA)
C=0.241271 (33789/140046, GnomAD) (+ 19 more)
T=0.47279 (13360/28258, 14KJPN)
T=0.47411 (7946/16760, 8.3KJPN)
C=0.3082 (1974/6404, 1000G_30x)
C=0.3073 (1539/5008, 1000G)
C=0.1011 (453/4480, Estonian)
C=0.0911 (351/3854, ALSPAC)
C=0.0887 (329/3708, TWINSUK)
C=0.4922 (1442/2930, KOREAN)
C=0.3148 (656/2084, HGDP_Stanford)
C=0.3515 (665/1892, HapMap)
C=0.4853 (889/1832, Korea1K)
C=0.100 (100/998, GoNL)
C=0.090 (54/600, NorthernSweden)
T=0.333 (98/294, SGDP_PRJ)
C=0.111 (24/216, Qatari)
C=0.486 (104/214, Vietnamese)
C=0.00 (0/72, Ancient Sardinia)
C=0.10 (4/40, GENOME_DK)
T=0.42 (11/26, 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 197664 T=0.884911 C=0.115089
European Sub 174552 T=0.906870 C=0.093130
African Sub 7090 T=0.5227 C=0.4773
African Others Sub 262 T=0.454 C=0.546
African American Sub 6828 T=0.5253 C=0.4747
Asian Sub 702 T=0.514 C=0.486
East Asian Sub 556 T=0.484 C=0.516
Other Asian Sub 146 T=0.630 C=0.370
Latin American 1 Sub 784 T=0.772 C=0.228
Latin American 2 Sub 2842 T=0.6513 C=0.3487
South Asian Sub 5042 T=0.9197 C=0.0803
Other Sub 6652 T=0.8207 C=0.1793


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 T=0.734353 C=0.265647
Allele Frequency Aggregator Total Global 197664 T=0.884911 C=0.115089
Allele Frequency Aggregator European Sub 174552 T=0.906870 C=0.093130
Allele Frequency Aggregator African Sub 7090 T=0.5227 C=0.4773
Allele Frequency Aggregator Other Sub 6652 T=0.8207 C=0.1793
Allele Frequency Aggregator South Asian Sub 5042 T=0.9197 C=0.0803
Allele Frequency Aggregator Latin American 2 Sub 2842 T=0.6513 C=0.3487
Allele Frequency Aggregator Latin American 1 Sub 784 T=0.772 C=0.228
Allele Frequency Aggregator Asian Sub 702 T=0.514 C=0.486
gnomAD - Genomes Global Study-wide 140046 T=0.758729 C=0.241271
gnomAD - Genomes European Sub 75896 T=0.90325 C=0.09675
gnomAD - Genomes African Sub 41938 T=0.52284 C=0.47716
gnomAD - Genomes American Sub 13630 T=0.70213 C=0.29787
gnomAD - Genomes Ashkenazi Jewish Sub 3318 T=0.8758 C=0.1242
gnomAD - Genomes East Asian Sub 3112 T=0.5389 C=0.4611
gnomAD - Genomes Other Sub 2152 T=0.7546 C=0.2454
14KJPN JAPANESE Study-wide 28258 T=0.47279 C=0.52721
8.3KJPN JAPANESE Study-wide 16760 T=0.47411 C=0.52589
1000Genomes_30x Global Study-wide 6404 T=0.6918 C=0.3082
1000Genomes_30x African Sub 1786 T=0.4910 C=0.5090
1000Genomes_30x Europe Sub 1266 T=0.9028 C=0.0972
1000Genomes_30x South Asian Sub 1202 T=0.9235 C=0.0765
1000Genomes_30x East Asian Sub 1170 T=0.5410 C=0.4590
1000Genomes_30x American Sub 980 T=0.681 C=0.319
1000Genomes Global Study-wide 5008 T=0.6927 C=0.3073
1000Genomes African Sub 1322 T=0.4887 C=0.5113
1000Genomes East Asian Sub 1008 T=0.5387 C=0.4613
1000Genomes Europe Sub 1006 T=0.9016 C=0.0984
1000Genomes South Asian Sub 978 T=0.922 C=0.078
1000Genomes American Sub 694 T=0.679 C=0.321
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8989 C=0.1011
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9089 C=0.0911
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9113 C=0.0887
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.5078 C=0.4922
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.6852 C=0.3148
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.466 C=0.534
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.874 C=0.126
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.889 C=0.111
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.878 C=0.122
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.434 C=0.566
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.472 C=0.528
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.67 C=0.33
HapMap Global Study-wide 1892 T=0.6485 C=0.3515
HapMap American Sub 770 T=0.745 C=0.255
HapMap African Sub 692 T=0.513 C=0.487
HapMap Asian Sub 254 T=0.543 C=0.457
HapMap Europe Sub 176 T=0.909 C=0.091
Korean Genome Project KOREAN Study-wide 1832 T=0.5147 C=0.4853
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.900 C=0.100
Northern Sweden ACPOP Study-wide 600 T=0.910 C=0.090
SGDP_PRJ Global Study-wide 294 T=0.333 C=0.667
Qatari Global Study-wide 216 T=0.889 C=0.111
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.514 C=0.486
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 72 T=1.00 C=0.00
The Danish reference pan genome Danish Study-wide 40 T=0.90 C=0.10
Siberian Global Study-wide 26 T=0.42 C=0.58
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 4 NC_000004.12:g.37071124T>C
GRCh37.p13 chr 4 NC_000004.11:g.37072746T>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 T= C
GRCh38.p14 chr 4 NC_000004.12:g.37071124= NC_000004.12:g.37071124T>C
GRCh37.p13 chr 4 NC_000004.11:g.37072746= NC_000004.11:g.37072746T>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#.

111 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17811565 Feb 28, 2004 (120)
2 PERLEGEN ss24221332 Sep 20, 2004 (123)
3 ABI ss44489983 Mar 14, 2006 (126)
4 ILLUMINA ss66636307 Nov 30, 2006 (127)
5 ILLUMINA ss66969674 Nov 30, 2006 (127)
6 ILLUMINA ss67138357 Nov 30, 2006 (127)
7 PERLEGEN ss68896261 May 17, 2007 (127)
8 ILLUMINA ss70402601 May 17, 2007 (127)
9 ILLUMINA ss70549251 May 26, 2008 (130)
10 ILLUMINA ss71084069 May 17, 2007 (127)
11 ILLUMINA ss75496490 Dec 06, 2007 (129)
12 KRIBB_YJKIM ss85163276 Dec 16, 2007 (130)
13 HGSV ss85776428 Dec 16, 2007 (130)
14 1000GENOMES ss112093148 Jan 25, 2009 (130)
15 ILLUMINA ss121522489 Dec 01, 2009 (131)
16 ILLUMINA ss153097567 Dec 01, 2009 (131)
17 ILLUMINA ss159196930 Dec 01, 2009 (131)
18 ILLUMINA ss160019531 Dec 01, 2009 (131)
19 ENSEMBL ss161546884 Dec 01, 2009 (131)
20 COMPLETE_GENOMICS ss163340377 Jul 04, 2010 (132)
21 ILLUMINA ss170004637 Jul 04, 2010 (132)
22 ILLUMINA ss171736398 Jul 04, 2010 (132)
23 1000GENOMES ss220859534 Jul 14, 2010 (132)
24 1000GENOMES ss232344034 Jul 14, 2010 (132)
25 1000GENOMES ss239647097 Jul 15, 2010 (132)
26 GMI ss277655034 May 04, 2012 (137)
27 PJP ss293325202 May 09, 2011 (134)
28 ILLUMINA ss410896658 Sep 17, 2011 (135)
29 ILLUMINA ss479634128 May 04, 2012 (137)
30 ILLUMINA ss479639372 May 04, 2012 (137)
31 ILLUMINA ss480143968 Sep 08, 2015 (146)
32 ILLUMINA ss484615752 May 04, 2012 (137)
33 ILLUMINA ss536739443 Sep 08, 2015 (146)
34 TISHKOFF ss557437308 Apr 25, 2013 (138)
35 SSMP ss651218826 Apr 25, 2013 (138)
36 ILLUMINA ss778395616 Sep 08, 2015 (146)
37 ILLUMINA ss782754691 Sep 08, 2015 (146)
38 ILLUMINA ss783721255 Sep 08, 2015 (146)
39 ILLUMINA ss825371909 Apr 01, 2015 (144)
40 ILLUMINA ss832006875 Sep 08, 2015 (146)
41 ILLUMINA ss832709397 Jul 13, 2019 (153)
42 ILLUMINA ss833850729 Sep 08, 2015 (146)
43 EVA-GONL ss979983062 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1071439763 Aug 21, 2014 (142)
45 1000GENOMES ss1309232915 Aug 21, 2014 (142)
46 DDI ss1429839882 Apr 01, 2015 (144)
47 EVA_GENOME_DK ss1580502767 Apr 01, 2015 (144)
48 EVA_DECODE ss1589476831 Apr 01, 2015 (144)
49 EVA_UK10K_ALSPAC ss1609835303 Apr 01, 2015 (144)
50 EVA_UK10K_TWINSUK ss1652829336 Apr 01, 2015 (144)
51 EVA_SVP ss1712664935 Apr 01, 2015 (144)
52 ILLUMINA ss1752520615 Sep 08, 2015 (146)
53 HAMMER_LAB ss1801275432 Sep 08, 2015 (146)
54 WEILL_CORNELL_DGM ss1923213839 Feb 12, 2016 (147)
55 GENOMED ss1969709405 Jul 19, 2016 (147)
56 JJLAB ss2022189997 Sep 14, 2016 (149)
57 USC_VALOUEV ss2150300322 Dec 20, 2016 (150)
58 HUMAN_LONGEVITY ss2262051683 Dec 20, 2016 (150)
59 SYSTEMSBIOZJU ss2625594914 Nov 08, 2017 (151)
60 ILLUMINA ss2634105692 Nov 08, 2017 (151)
61 ILLUMINA ss2634105693 Nov 08, 2017 (151)
62 GRF ss2705753471 Nov 08, 2017 (151)
63 GNOMAD ss2807853560 Nov 08, 2017 (151)
64 SWEGEN ss2994462602 Nov 08, 2017 (151)
65 BIOINF_KMB_FNS_UNIBA ss3024864393 Nov 08, 2017 (151)
66 CSHL ss3345642977 Nov 08, 2017 (151)
67 ILLUMINA ss3628941799 Oct 12, 2018 (152)
68 ILLUMINA ss3632043193 Oct 12, 2018 (152)
69 ILLUMINA ss3633331563 Oct 12, 2018 (152)
70 ILLUMINA ss3634050425 Oct 12, 2018 (152)
71 ILLUMINA ss3634947818 Oct 12, 2018 (152)
72 ILLUMINA ss3635733427 Oct 12, 2018 (152)
73 ILLUMINA ss3636650355 Oct 12, 2018 (152)
74 ILLUMINA ss3637485938 Oct 12, 2018 (152)
75 ILLUMINA ss3638480879 Oct 12, 2018 (152)
76 ILLUMINA ss3639243381 Oct 12, 2018 (152)
77 ILLUMINA ss3639642400 Oct 12, 2018 (152)
78 ILLUMINA ss3640655114 Oct 12, 2018 (152)
79 ILLUMINA ss3641161446 Oct 12, 2018 (152)
80 ILLUMINA ss3641458270 Oct 12, 2018 (152)
81 ILLUMINA ss3643432644 Oct 12, 2018 (152)
82 EGCUT_WGS ss3662382752 Jul 13, 2019 (153)
83 EVA_DECODE ss3711804287 Jul 13, 2019 (153)
84 ACPOP ss3731038718 Jul 13, 2019 (153)
85 ILLUMINA ss3745248088 Jul 13, 2019 (153)
86 EVA ss3761649738 Jul 13, 2019 (153)
87 ILLUMINA ss3772742765 Jul 13, 2019 (153)
88 KHV_HUMAN_GENOMES ss3804781624 Jul 13, 2019 (153)
89 EVA ss3828474716 Apr 26, 2020 (154)
90 HGDP ss3847747084 Apr 26, 2020 (154)
91 SGDP_PRJ ss3858646456 Apr 26, 2020 (154)
92 KRGDB ss3904819071 Apr 26, 2020 (154)
93 KOGIC ss3953892223 Apr 26, 2020 (154)
94 EVA ss3985063458 Apr 26, 2021 (155)
95 EVA ss4017140933 Apr 26, 2021 (155)
96 TOPMED ss4609618208 Apr 26, 2021 (155)
97 TOMMO_GENOMICS ss5165084117 Apr 26, 2021 (155)
98 1000G_HIGH_COVERAGE ss5258744926 Oct 13, 2022 (156)
99 EVA ss5314949877 Oct 13, 2022 (156)
100 EVA ss5348177945 Oct 13, 2022 (156)
101 HUGCELL_USP ss5457576307 Oct 13, 2022 (156)
102 EVA ss5507466539 Oct 13, 2022 (156)
103 1000G_HIGH_COVERAGE ss5539559246 Oct 13, 2022 (156)
104 SANFORD_IMAGENETICS ss5634757988 Oct 13, 2022 (156)
105 TOMMO_GENOMICS ss5698972990 Oct 13, 2022 (156)
106 EVA ss5799612298 Oct 13, 2022 (156)
107 YY_MCH ss5804938569 Oct 13, 2022 (156)
108 EVA ss5843823601 Oct 13, 2022 (156)
109 EVA ss5854168713 Oct 13, 2022 (156)
110 EVA ss5862951778 Oct 13, 2022 (156)
111 EVA ss5963149273 Oct 13, 2022 (156)
112 1000Genomes NC_000004.11 - 37072746 Oct 12, 2018 (152)
113 1000Genomes_30x NC_000004.12 - 37071124 Oct 13, 2022 (156)
114 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 37072746 Oct 12, 2018 (152)
115 Genetic variation in the Estonian population NC_000004.11 - 37072746 Oct 12, 2018 (152)
116 The Danish reference pan genome NC_000004.11 - 37072746 Apr 26, 2020 (154)
117 gnomAD - Genomes NC_000004.12 - 37071124 Apr 26, 2021 (155)
118 Genome of the Netherlands Release 5 NC_000004.11 - 37072746 Apr 26, 2020 (154)
119 HGDP-CEPH-db Supplement 1 NC_000004.10 - 36749141 Apr 26, 2020 (154)
120 HapMap NC_000004.12 - 37071124 Apr 26, 2020 (154)
121 KOREAN population from KRGDB NC_000004.11 - 37072746 Apr 26, 2020 (154)
122 Korean Genome Project NC_000004.12 - 37071124 Apr 26, 2020 (154)
123 Northern Sweden NC_000004.11 - 37072746 Jul 13, 2019 (153)
124 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000004.11 - 37072746 Apr 26, 2021 (155)
125 Qatari NC_000004.11 - 37072746 Apr 26, 2020 (154)
126 SGDP_PRJ NC_000004.11 - 37072746 Apr 26, 2020 (154)
127 Siberian NC_000004.11 - 37072746 Apr 26, 2020 (154)
128 8.3KJPN NC_000004.11 - 37072746 Apr 26, 2021 (155)
129 14KJPN NC_000004.12 - 37071124 Oct 13, 2022 (156)
130 TopMed NC_000004.12 - 37071124 Apr 26, 2021 (155)
131 UK 10K study - Twins NC_000004.11 - 37072746 Oct 12, 2018 (152)
132 A Vietnamese Genetic Variation Database NC_000004.11 - 37072746 Jul 13, 2019 (153)
133 ALFA NC_000004.12 - 37071124 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)
rs17217804 Oct 07, 2004 (123)
rs61146131 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss85776428, ss3639243381, ss3639642400 NC_000004.9:36895311:T:C NC_000004.12:37071123:T:C (self)
424976, ss112093148, ss163340377, ss277655034, ss293325202, ss479634128, ss825371909, ss1589476831, ss1712664935, ss3643432644, ss3847747084 NC_000004.10:36749140:T:C NC_000004.12:37071123:T:C (self)
20610054, 11482916, 8121000, 6667706, 5059159, 11996465, 4323583, 289385, 5255769, 10663436, 2816676, 23053424, 11482916, 2519012, ss220859534, ss232344034, ss239647097, ss479639372, ss480143968, ss484615752, ss536739443, ss557437308, ss651218826, ss778395616, ss782754691, ss783721255, ss832006875, ss832709397, ss833850729, ss979983062, ss1071439763, ss1309232915, ss1429839882, ss1580502767, ss1609835303, ss1652829336, ss1752520615, ss1801275432, ss1923213839, ss1969709405, ss2022189997, ss2150300322, ss2625594914, ss2634105692, ss2634105693, ss2705753471, ss2807853560, ss2994462602, ss3345642977, ss3628941799, ss3632043193, ss3633331563, ss3634050425, ss3634947818, ss3635733427, ss3636650355, ss3637485938, ss3638480879, ss3640655114, ss3641161446, ss3641458270, ss3662382752, ss3731038718, ss3745248088, ss3761649738, ss3772742765, ss3828474716, ss3858646456, ss3904819071, ss3985063458, ss4017140933, ss5165084117, ss5314949877, ss5348177945, ss5507466539, ss5634757988, ss5799612298, ss5843823601, ss5963149273 NC_000004.11:37072745:T:C NC_000004.12:37071123:T:C (self)
27085181, 145948008, 2593995, 10270224, 32810094, 446995764, 4126132, ss2262051683, ss3024864393, ss3711804287, ss3804781624, ss3953892223, ss4609618208, ss5258744926, ss5457576307, ss5539559246, ss5698972990, ss5804938569, ss5854168713, ss5862951778 NC_000004.12:37071123:T:C NC_000004.12:37071123:T:C (self)
ss17811565 NT_016297.15:4221388:T:C NC_000004.12:37071123:T:C (self)
ss24221332, ss44489983, ss66636307, ss66969674, ss67138357, ss68896261, ss70402601, ss70549251, ss71084069, ss75496490, ss85163276, ss121522489, ss153097567, ss159196930, ss160019531, ss161546884, ss170004637, ss171736398, ss410896658 NT_016297.16:4232107:T:C NC_000004.12:37071123:T: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 rs11943045

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