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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.

rs7732130

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:77139179 (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
G=0.227406 (60192/264690, TOPMED)
G=0.223549 (31329/140144, GnomAD)
G=0.26160 (8803/33650, ALFA) (+ 16 more)
G=0.01950 (551/28258, 14KJPN)
G=0.02047 (343/16760, 8.3KJPN)
G=0.1601 (1025/6404, 1000G_30x)
G=0.1613 (808/5008, 1000G)
G=0.2435 (1091/4480, Estonian)
G=0.3132 (1207/3854, ALSPAC)
G=0.3185 (1181/3708, TWINSUK)
G=0.0246 (72/2930, KOREAN)
G=0.2601 (295/1134, Daghestan)
G=0.288 (287/998, GoNL)
G=0.277 (166/600, NorthernSweden)
G=0.132 (68/516, SGDP_PRJ)
G=0.255 (55/216, Qatari)
G=0.066 (14/212, Vietnamese)
G=0.21 (11/52, Siberian)
G=0.33 (13/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ZBED3-AS1 : Intron Variant
Publications
2 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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 33650 G=0.26160 A=0.73840 0.076137 0.552927 0.370936 15
European Sub 24818 G=0.30002 A=0.69998 0.090176 0.490128 0.419695 0
African Sub 5800 G=0.0767 A=0.9233 0.004483 0.851034 0.144483 1
African Others Sub 208 G=0.019 A=0.981 0.0 0.961538 0.038462 0
African American Sub 5592 G=0.0789 A=0.9211 0.004649 0.846924 0.148426 1
Asian Sub 130 G=0.062 A=0.938 0.0 0.876923 0.123077 0
East Asian Sub 102 G=0.059 A=0.941 0.0 0.882353 0.117647 0
Other Asian Sub 28 G=0.07 A=0.93 0.0 0.857143 0.142857 0
Latin American 1 Sub 168 G=0.339 A=0.661 0.107143 0.428571 0.464286 0
Latin American 2 Sub 700 G=0.347 A=0.653 0.114286 0.42 0.465714 0
South Asian Sub 116 G=0.241 A=0.759 0.051724 0.568966 0.37931 0
Other Sub 1918 G=0.3003 A=0.6997 0.101147 0.500521 0.398332 2


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=0.227406 A=0.772594
gnomAD - Genomes Global Study-wide 140144 G=0.223549 A=0.776451
gnomAD - Genomes European Sub 75888 G=0.29023 A=0.70977
gnomAD - Genomes African Sub 42014 G=0.07407 A=0.92593
gnomAD - Genomes American Sub 13642 G=0.31454 A=0.68546
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.3660 A=0.6340
gnomAD - Genomes East Asian Sub 3134 G=0.0571 A=0.9429
gnomAD - Genomes Other Sub 2146 G=0.2363 A=0.7637
Allele Frequency Aggregator Total Global 33650 G=0.26160 A=0.73840
Allele Frequency Aggregator European Sub 24818 G=0.30002 A=0.69998
Allele Frequency Aggregator African Sub 5800 G=0.0767 A=0.9233
Allele Frequency Aggregator Other Sub 1918 G=0.3003 A=0.6997
Allele Frequency Aggregator Latin American 2 Sub 700 G=0.347 A=0.653
Allele Frequency Aggregator Latin American 1 Sub 168 G=0.339 A=0.661
Allele Frequency Aggregator Asian Sub 130 G=0.062 A=0.938
Allele Frequency Aggregator South Asian Sub 116 G=0.241 A=0.759
14KJPN JAPANESE Study-wide 28258 G=0.01950 A=0.98050
8.3KJPN JAPANESE Study-wide 16760 G=0.02047 A=0.97953
1000Genomes_30x Global Study-wide 6404 G=0.1601 A=0.8399
1000Genomes_30x African Sub 1786 G=0.0280 A=0.9720
1000Genomes_30x Europe Sub 1266 G=0.3278 A=0.6722
1000Genomes_30x South Asian Sub 1202 G=0.1597 A=0.8403
1000Genomes_30x East Asian Sub 1170 G=0.0496 A=0.9504
1000Genomes_30x American Sub 980 G=0.316 A=0.684
1000Genomes Global Study-wide 5008 G=0.1613 A=0.8387
1000Genomes African Sub 1322 G=0.0318 A=0.9682
1000Genomes East Asian Sub 1008 G=0.0506 A=0.9494
1000Genomes Europe Sub 1006 G=0.3280 A=0.6720
1000Genomes South Asian Sub 978 G=0.166 A=0.834
1000Genomes American Sub 694 G=0.321 A=0.679
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.2435 A=0.7565
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.3132 A=0.6868
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3185 A=0.6815
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.0246 A=0.9754, C=0.0000
Genome-wide autozygosity in Daghestan Global Study-wide 1134 G=0.2601 A=0.7399
Genome-wide autozygosity in Daghestan Daghestan Sub 628 G=0.260 A=0.740
Genome-wide autozygosity in Daghestan Near_East Sub 144 G=0.299 A=0.701
Genome-wide autozygosity in Daghestan Central Asia Sub 122 G=0.262 A=0.738
Genome-wide autozygosity in Daghestan Europe Sub 108 G=0.259 A=0.741
Genome-wide autozygosity in Daghestan South Asian Sub 96 G=0.18 A=0.82
Genome-wide autozygosity in Daghestan Caucasus Sub 36 G=0.33 A=0.67
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.288 A=0.712
Northern Sweden ACPOP Study-wide 600 G=0.277 A=0.723
SGDP_PRJ Global Study-wide 516 G=0.132 A=0.868
Qatari Global Study-wide 216 G=0.255 A=0.745
A Vietnamese Genetic Variation Database Global Study-wide 212 G=0.066 A=0.934
Siberian Global Study-wide 52 G=0.21 A=0.79
The Danish reference pan genome Danish Study-wide 40 G=0.33 A=0.68
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 5 NC_000005.10:g.77139179G>A
GRCh38.p14 chr 5 NC_000005.10:g.77139179G>C
GRCh37.p13 chr 5 NC_000005.9:g.76435004G>A
GRCh37.p13 chr 5 NC_000005.9:g.76435004G>C
Gene: ZBED3-AS1, ZBED3 antisense RNA 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
ZBED3-AS1 transcript NR_024398.1:n. N/A Intron Variant
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 5 NC_000005.10:g.77139179= NC_000005.10:g.77139179G>A NC_000005.10:g.77139179G>C
GRCh37.p13 chr 5 NC_000005.9:g.76435004= NC_000005.9:g.76435004G>A NC_000005.9:g.76435004G>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#.

83 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss11757871 Jul 11, 2003 (116)
2 CSHL-HAPMAP ss19626117 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss20242026 Feb 27, 2004 (120)
4 ABI ss42524625 Mar 14, 2006 (126)
5 HGSV ss78436667 Dec 07, 2007 (129)
6 BCMHGSC_JDW ss93142561 Mar 24, 2008 (129)
7 BGI ss105931995 Feb 06, 2009 (130)
8 1000GENOMES ss109143036 Jan 23, 2009 (130)
9 ILLUMINA-UK ss116675946 Feb 14, 2009 (130)
10 ENSEMBL ss143221502 Dec 01, 2009 (131)
11 GMI ss155618443 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss162378179 Jul 04, 2010 (132)
13 BUSHMAN ss200418254 Jul 04, 2010 (132)
14 BCM-HGSC-SUB ss206965432 Jul 04, 2010 (132)
15 1000GENOMES ss211653987 Jul 14, 2010 (132)
16 1000GENOMES ss221754691 Jul 14, 2010 (132)
17 1000GENOMES ss233000217 Jul 14, 2010 (132)
18 1000GENOMES ss240160742 Jul 15, 2010 (132)
19 BL ss253555093 May 09, 2011 (134)
20 GMI ss278344859 May 04, 2012 (137)
21 GMI ss285200506 Apr 25, 2013 (138)
22 PJP ss293384067 May 09, 2011 (134)
23 ILLUMINA ss410854337 Sep 17, 2011 (135)
24 ILLUMINA ss479614882 May 04, 2012 (137)
25 ILLUMINA ss485079918 May 04, 2012 (137)
26 ILLUMINA ss533134849 Sep 08, 2015 (146)
27 TISHKOFF ss558481293 Apr 25, 2013 (138)
28 SSMP ss652352738 Apr 25, 2013 (138)
29 ILLUMINA ss779619595 Sep 08, 2015 (146)
30 ILLUMINA ss781025389 Sep 08, 2015 (146)
31 ILLUMINA ss835091981 Sep 08, 2015 (146)
32 EVA-GONL ss981713816 Aug 21, 2014 (142)
33 1000GENOMES ss1315660327 Aug 21, 2014 (142)
34 HAMMER_LAB ss1397417089 Sep 08, 2015 (146)
35 DDI ss1430387297 Apr 01, 2015 (144)
36 EVA_GENOME_DK ss1581194984 Apr 01, 2015 (144)
37 EVA_DECODE ss1591233289 Apr 01, 2015 (144)
38 EVA_UK10K_ALSPAC ss1613186552 Apr 01, 2015 (144)
39 EVA_UK10K_TWINSUK ss1656180585 Apr 01, 2015 (144)
40 HAMMER_LAB ss1803705760 Sep 08, 2015 (146)
41 WEILL_CORNELL_DGM ss1924970632 Feb 12, 2016 (147)
42 GENOMED ss1970120879 Jul 19, 2016 (147)
43 JJLAB ss2023091195 Sep 14, 2016 (149)
44 USC_VALOUEV ss2151246345 Dec 20, 2016 (150)
45 HUMAN_LONGEVITY ss2274864564 Dec 20, 2016 (150)
46 SYSTEMSBIOZJU ss2626042211 Nov 08, 2017 (151)
47 ILLUMINA ss2634296067 Nov 08, 2017 (151)
48 ILLUMINA ss2634296068 Nov 08, 2017 (151)
49 GRF ss2706796193 Nov 08, 2017 (151)
50 GNOMAD ss2826262752 Nov 08, 2017 (151)
51 SWEGEN ss2997166936 Nov 08, 2017 (151)
52 BIOINF_KMB_FNS_UNIBA ss3025330118 Nov 08, 2017 (151)
53 CSHL ss3346452052 Nov 08, 2017 (151)
54 ILLUMINA ss3629264372 Oct 12, 2018 (152)
55 ILLUMINA ss3632222322 Oct 12, 2018 (152)
56 ILLUMINA ss3642422614 Oct 12, 2018 (152)
57 EGCUT_WGS ss3665045465 Jul 13, 2019 (153)
58 EVA_DECODE ss3714956927 Jul 13, 2019 (153)
59 ACPOP ss3732478209 Jul 13, 2019 (153)
60 EVA ss3763599876 Jul 13, 2019 (153)
61 PACBIO ss3785149189 Jul 13, 2019 (153)
62 PACBIO ss3790549322 Jul 13, 2019 (153)
63 PACBIO ss3795425908 Jul 13, 2019 (153)
64 KHV_HUMAN_GENOMES ss3806767726 Jul 13, 2019 (153)
65 EVA ss3829314332 Apr 26, 2020 (154)
66 EVA ss3838130553 Apr 26, 2020 (154)
67 EVA ss3843571435 Apr 26, 2020 (154)
68 SGDP_PRJ ss3862161164 Apr 26, 2020 (154)
69 KRGDB ss3908729858 Apr 26, 2020 (154)
70 TOPMED ss4664900176 Apr 26, 2021 (155)
71 TOMMO_GENOMICS ss5172398522 Apr 26, 2021 (155)
72 1000G_HIGH_COVERAGE ss5264474976 Oct 13, 2022 (156)
73 EVA ss5315061384 Oct 13, 2022 (156)
74 EVA ss5358476708 Oct 13, 2022 (156)
75 HUGCELL_USP ss5462596684 Oct 13, 2022 (156)
76 1000G_HIGH_COVERAGE ss5548383383 Oct 13, 2022 (156)
77 SANFORD_IMAGENETICS ss5638091494 Oct 13, 2022 (156)
78 TOMMO_GENOMICS ss5708982395 Oct 13, 2022 (156)
79 YY_MCH ss5806442746 Oct 13, 2022 (156)
80 EVA ss5835119449 Oct 13, 2022 (156)
81 EVA ss5854870377 Oct 13, 2022 (156)
82 EVA ss5894750480 Oct 13, 2022 (156)
83 EVA ss5966522715 Oct 13, 2022 (156)
84 1000Genomes NC_000005.9 - 76435004 Oct 12, 2018 (152)
85 1000Genomes_30x NC_000005.10 - 77139179 Oct 13, 2022 (156)
86 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 76435004 Oct 12, 2018 (152)
87 Genome-wide autozygosity in Daghestan NC_000005.8 - 76470760 Apr 26, 2020 (154)
88 Genetic variation in the Estonian population NC_000005.9 - 76435004 Oct 12, 2018 (152)
89 The Danish reference pan genome NC_000005.9 - 76435004 Apr 26, 2020 (154)
90 gnomAD - Genomes NC_000005.10 - 77139179 Apr 26, 2021 (155)
91 Genome of the Netherlands Release 5 NC_000005.9 - 76435004 Apr 26, 2020 (154)
92 KOREAN population from KRGDB NC_000005.9 - 76435004 Apr 26, 2020 (154)
93 Northern Sweden NC_000005.9 - 76435004 Jul 13, 2019 (153)
94 Qatari NC_000005.9 - 76435004 Apr 26, 2020 (154)
95 SGDP_PRJ NC_000005.9 - 76435004 Apr 26, 2020 (154)
96 Siberian NC_000005.9 - 76435004 Apr 26, 2020 (154)
97 8.3KJPN NC_000005.9 - 76435004 Apr 26, 2021 (155)
98 14KJPN NC_000005.10 - 77139179 Oct 13, 2022 (156)
99 TopMed NC_000005.10 - 77139179 Apr 26, 2021 (155)
100 UK 10K study - Twins NC_000005.9 - 76435004 Oct 12, 2018 (152)
101 A Vietnamese Genetic Variation Database NC_000005.9 - 76435004 Jul 13, 2019 (153)
102 ALFA NC_000005.10 - 77139179 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
392081, ss78436667, ss93142561, ss109143036, ss116675946, ss162378179, ss200418254, ss206965432, ss211653987, ss253555093, ss278344859, ss285200506, ss293384067, ss485079918, ss1397417089, ss1591233289 NC_000005.8:76470759:G:A NC_000005.10:77139178:G:A (self)
27280991, 15167853, 10783713, 7359923, 6743040, 15907252, 5763074, 7012562, 14178144, 3762699, 30367829, 15167853, 3367204, ss221754691, ss233000217, ss240160742, ss479614882, ss533134849, ss558481293, ss652352738, ss779619595, ss781025389, ss835091981, ss981713816, ss1315660327, ss1430387297, ss1581194984, ss1613186552, ss1656180585, ss1803705760, ss1924970632, ss1970120879, ss2023091195, ss2151246345, ss2626042211, ss2634296067, ss2634296068, ss2706796193, ss2826262752, ss2997166936, ss3346452052, ss3629264372, ss3632222322, ss3642422614, ss3665045465, ss3732478209, ss3763599876, ss3785149189, ss3790549322, ss3795425908, ss3829314332, ss3838130553, ss3862161164, ss3908729858, ss5172398522, ss5315061384, ss5358476708, ss5638091494, ss5835119449, ss5966522715 NC_000005.9:76435003:G:A NC_000005.10:77139178:G:A (self)
35909318, 192840363, 42819499, 502277733, 12859689547, ss2274864564, ss3025330118, ss3714956927, ss3806767726, ss3843571435, ss4664900176, ss5264474976, ss5462596684, ss5548383383, ss5708982395, ss5806442746, ss5854870377, ss5894750480 NC_000005.10:77139178:G:A NC_000005.10:77139178:G:A (self)
ss11757871, ss19626117, ss20242026 NT_006713.13:5827135:G:A NC_000005.10:77139178:G:A (self)
ss42524625, ss105931995, ss143221502, ss155618443, ss410854337 NT_006713.15:27029362:G:A NC_000005.10:77139178:G:A (self)
15907252, ss3908729858 NC_000005.9:76435003:G:C NC_000005.10:77139178: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.

2 citations for rs7732130
PMID Title Author Year Journal
26977395 Integration of ATAC-seq and RNA-seq identifies human alpha cell and beta cell signature genes. Ackermann AM et al. 2016 Molecular metabolism
34502231 Common Genetic Aberrations Associated with Metabolic Interferences in Human Type-2 Diabetes and Acute Myeloid Leukemia: A Bioinformatics Approach. Kyriakou TC et al. 2021 International journal of molecular sciences
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.post820+afb47a3d