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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.

rs132793

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr22:41667677 (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>C / A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.173720 (45982/264690, TOPMED)
A=0.160365 (22453/140012, GnomAD)
A=0.198976 (27395/137680, ALFA) (+ 20 more)
A=0.05092 (1439/28258, 14KJPN)
A=0.05137 (861/16760, 8.3KJPN)
A=0.1782 (1141/6404, 1000G_30x)
A=0.1743 (873/5008, 1000G)
A=0.1694 (759/4480, Estonian)
A=0.1840 (709/3854, ALSPAC)
A=0.1842 (683/3708, TWINSUK)
A=0.0502 (147/2930, KOREAN)
A=0.2059 (429/2084, HGDP_Stanford)
A=0.0453 (83/1832, Korea1K)
A=0.1431 (255/1782, HapMap)
A=0.173 (173/998, GoNL)
A=0.057 (44/770, PRJEB37584)
A=0.207 (124/600, NorthernSweden)
A=0.131 (68/518, SGDP_PRJ)
A=0.245 (53/216, Qatari)
A=0.067 (14/210, Vietnamese)
A=0.31 (22/72, Ancient Sardinia)
A=0.19 (10/54, Siberian)
A=0.15 (6/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
4 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 137680 A=0.198976 G=0.801024, T=0.000000
European Sub 112786 A=0.186974 G=0.813026, T=0.000000
African Sub 6402 A=0.0417 G=0.9583, T=0.0000
African Others Sub 234 A=0.017 G=0.983, T=0.000
African American Sub 6168 A=0.0426 G=0.9574, T=0.0000
Asian Sub 654 A=0.073 G=0.927, T=0.000
East Asian Sub 526 A=0.074 G=0.926, T=0.000
Other Asian Sub 128 A=0.070 G=0.930, T=0.000
Latin American 1 Sub 770 A=0.192 G=0.808, T=0.000
Latin American 2 Sub 6340 A=0.4954 G=0.5046, T=0.0000
South Asian Sub 5034 A=0.2984 G=0.7016, T=0.0000
Other Sub 5694 A=0.2109 G=0.7891, 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=0.173720 G=0.826280
gnomAD - Genomes Global Study-wide 140012 A=0.160365 G=0.839635
gnomAD - Genomes European Sub 75828 A=0.18758 G=0.81242
gnomAD - Genomes African Sub 41978 A=0.04405 G=0.95595
gnomAD - Genomes American Sub 13612 A=0.35755 G=0.64245
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.2781 G=0.7219
gnomAD - Genomes East Asian Sub 3122 A=0.0577 G=0.9423
gnomAD - Genomes Other Sub 2150 A=0.1902 G=0.8098
Allele Frequency Aggregator Total Global 137680 A=0.198976 G=0.801024, T=0.000000
Allele Frequency Aggregator European Sub 112786 A=0.186974 G=0.813026, T=0.000000
Allele Frequency Aggregator African Sub 6402 A=0.0417 G=0.9583, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 6340 A=0.4954 G=0.5046, T=0.0000
Allele Frequency Aggregator Other Sub 5694 A=0.2109 G=0.7891, T=0.0000
Allele Frequency Aggregator South Asian Sub 5034 A=0.2984 G=0.7016, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 770 A=0.192 G=0.808, T=0.000
Allele Frequency Aggregator Asian Sub 654 A=0.073 G=0.927, T=0.000
14KJPN JAPANESE Study-wide 28258 A=0.05092 G=0.94908
8.3KJPN JAPANESE Study-wide 16760 A=0.05137 G=0.94863
1000Genomes_30x Global Study-wide 6404 A=0.1782 G=0.8218
1000Genomes_30x African Sub 1786 A=0.0134 G=0.9866
1000Genomes_30x Europe Sub 1266 A=0.1951 G=0.8049
1000Genomes_30x South Asian Sub 1202 A=0.3153 G=0.6847
1000Genomes_30x East Asian Sub 1170 A=0.0632 G=0.9368
1000Genomes_30x American Sub 980 A=0.426 G=0.574
1000Genomes Global Study-wide 5008 A=0.1743 G=0.8257
1000Genomes African Sub 1322 A=0.0189 G=0.9811
1000Genomes East Asian Sub 1008 A=0.0635 G=0.9365
1000Genomes Europe Sub 1006 A=0.1918 G=0.8082
1000Genomes South Asian Sub 978 A=0.314 G=0.686
1000Genomes American Sub 694 A=0.409 G=0.591
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.1694 G=0.8306
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.1840 G=0.8160
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.1842 G=0.8158
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.0502 G=0.9498, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.2059 G=0.7941
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.062 G=0.938
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.258 G=0.742
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.240 G=0.760
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.169 G=0.831
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.008 G=0.992
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.694 G=0.306
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.04 G=0.96
Korean Genome Project KOREAN Study-wide 1832 A=0.0453 G=0.9547
HapMap Global Study-wide 1782 A=0.1431 G=0.8569
HapMap American Sub 766 A=0.231 G=0.769
HapMap African Sub 586 A=0.056 G=0.944
HapMap Asian Sub 254 A=0.051 G=0.949
HapMap Europe Sub 176 A=0.182 G=0.818
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.173 G=0.827
CNV burdens in cranial meningiomas Global Study-wide 770 A=0.057 G=0.943
CNV burdens in cranial meningiomas CRM Sub 770 A=0.057 G=0.943
Northern Sweden ACPOP Study-wide 600 A=0.207 G=0.793
SGDP_PRJ Global Study-wide 518 A=0.131 G=0.869
Qatari Global Study-wide 216 A=0.245 G=0.755
A Vietnamese Genetic Variation Database Global Study-wide 210 A=0.067 G=0.933
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 72 A=0.31 G=0.69
Siberian Global Study-wide 54 A=0.19 G=0.81
The Danish reference pan genome Danish Study-wide 40 A=0.15 G=0.85
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 22 NC_000022.11:g.41667677A>C
GRCh38.p14 chr 22 NC_000022.11:g.41667677A>G
GRCh38.p14 chr 22 NC_000022.11:g.41667677A>T
GRCh37.p13 chr 22 NC_000022.10:g.42063681A>C
GRCh37.p13 chr 22 NC_000022.10:g.42063681A>G
GRCh37.p13 chr 22 NC_000022.10:g.42063681A>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= C G T
GRCh38.p14 chr 22 NC_000022.11:g.41667677= NC_000022.11:g.41667677A>C NC_000022.11:g.41667677A>G NC_000022.11:g.41667677A>T
GRCh37.p13 chr 22 NC_000022.10:g.42063681= NC_000022.10:g.42063681A>C NC_000022.10:g.42063681A>G NC_000022.10:g.42063681A>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#.

120 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC ss140598 Jun 24, 2000 (78)
2 SC_SNP ss8298509 Apr 21, 2003 (114)
3 SC_SNP ss13362091 Dec 05, 2003 (119)
4 CSHL-HAPMAP ss20142699 Feb 27, 2004 (120)
5 KRIBB_YJKIM ss65824562 Dec 01, 2006 (127)
6 ILLUMINA ss66829033 Dec 01, 2006 (127)
7 ILLUMINA ss67070357 Dec 01, 2006 (127)
8 ILLUMINA ss67399509 Dec 01, 2006 (127)
9 ILLUMINA ss70422029 May 18, 2007 (127)
10 ILLUMINA ss70600769 May 25, 2008 (130)
11 ILLUMINA ss71145873 May 18, 2007 (127)
12 ILLUMINA ss75923301 Dec 06, 2007 (129)
13 KRIBB_YJKIM ss83364333 Dec 15, 2007 (130)
14 HGSV ss85052256 Dec 15, 2007 (130)
15 BCMHGSC_JDW ss91930008 Mar 24, 2008 (129)
16 HUMANGENOME_JCVI ss96102265 Feb 06, 2009 (130)
17 BGI ss106228577 Feb 06, 2009 (130)
18 1000GENOMES ss112669084 Jan 25, 2009 (130)
19 1000GENOMES ss114252507 Jan 25, 2009 (130)
20 ILLUMINA-UK ss117415662 Feb 14, 2009 (130)
21 ILLUMINA ss121635311 Dec 01, 2009 (131)
22 ENSEMBL ss138360025 Dec 01, 2009 (131)
23 ENSEMBL ss143206745 Dec 01, 2009 (131)
24 ILLUMINA ss153349002 Dec 01, 2009 (131)
25 GMI ss157213592 Dec 01, 2009 (131)
26 ILLUMINA ss159252148 Dec 01, 2009 (131)
27 ILLUMINA ss160328258 Dec 01, 2009 (131)
28 COMPLETE_GENOMICS ss168001906 Jul 04, 2010 (132)
29 COMPLETE_GENOMICS ss169348618 Jul 04, 2010 (132)
30 ILLUMINA ss170340771 Jul 04, 2010 (132)
31 COMPLETE_GENOMICS ss172006693 Jul 04, 2010 (132)
32 ILLUMINA ss172377441 Jul 04, 2010 (132)
33 BUSHMAN ss204098930 Jul 04, 2010 (132)
34 BCM-HGSC-SUB ss208824025 Jul 04, 2010 (132)
35 1000GENOMES ss228697103 Jul 14, 2010 (132)
36 1000GENOMES ss238081069 Jul 15, 2010 (132)
37 1000GENOMES ss244196628 Jul 15, 2010 (132)
38 BL ss255926846 May 09, 2011 (134)
39 GMI ss283648147 May 04, 2012 (137)
40 GMI ss287574659 Apr 25, 2013 (138)
41 PJP ss292767351 May 09, 2011 (134)
42 ILLUMINA ss479902429 May 04, 2012 (137)
43 ILLUMINA ss479910467 May 04, 2012 (137)
44 ILLUMINA ss480529570 Sep 08, 2015 (146)
45 ILLUMINA ss484749537 May 04, 2012 (137)
46 ILLUMINA ss536844223 Sep 08, 2015 (146)
47 TISHKOFF ss566665154 Apr 25, 2013 (138)
48 SSMP ss662594550 Apr 25, 2013 (138)
49 ILLUMINA ss779032889 Aug 21, 2014 (142)
50 ILLUMINA ss782821500 Aug 21, 2014 (142)
51 ILLUMINA ss783786564 Aug 21, 2014 (142)
52 ILLUMINA ss825391303 Apr 01, 2015 (144)
53 ILLUMINA ss832074878 Apr 01, 2015 (144)
54 ILLUMINA ss832764408 Aug 21, 2014 (142)
55 ILLUMINA ss833355238 Aug 21, 2014 (142)
56 ILLUMINA ss834495631 Aug 21, 2014 (142)
57 EVA-GONL ss995390603 Aug 21, 2014 (142)
58 JMKIDD_LAB ss1082685621 Aug 21, 2014 (142)
59 1000GENOMES ss1367323637 Aug 21, 2014 (142)
60 DDI ss1429267284 Apr 01, 2015 (144)
61 EVA_GENOME_DK ss1579766147 Apr 01, 2015 (144)
62 EVA_UK10K_ALSPAC ss1640077225 Apr 01, 2015 (144)
63 EVA_UK10K_TWINSUK ss1683071258 Apr 01, 2015 (144)
64 EVA_DECODE ss1699461980 Apr 01, 2015 (144)
65 EVA_SVP ss1713743793 Apr 01, 2015 (144)
66 HAMMER_LAB ss1809805200 Sep 08, 2015 (146)
67 WEILL_CORNELL_DGM ss1938958198 Feb 12, 2016 (147)
68 GENOMED ss1969279037 Jul 19, 2016 (147)
69 JJLAB ss2030251652 Sep 14, 2016 (149)
70 USC_VALOUEV ss2158871917 Dec 20, 2016 (150)
71 HUMAN_LONGEVITY ss2247661905 Dec 20, 2016 (150)
72 SYSTEMSBIOZJU ss2629622235 Nov 08, 2017 (151)
73 GRF ss2704624821 Nov 08, 2017 (151)
74 GNOMAD ss2974854967 Nov 08, 2017 (151)
75 SWEGEN ss3019369979 Nov 08, 2017 (151)
76 BIOINF_KMB_FNS_UNIBA ss3028961856 Nov 08, 2017 (151)
77 CSHL ss3352854241 Nov 08, 2017 (151)
78 ILLUMINA ss3628543852 Oct 12, 2018 (152)
79 ILLUMINA ss3631834191 Oct 12, 2018 (152)
80 ILLUMINA ss3633274491 Oct 12, 2018 (152)
81 ILLUMINA ss3633990403 Oct 12, 2018 (152)
82 ILLUMINA ss3636565648 Oct 12, 2018 (152)
83 ILLUMINA ss3638385462 Oct 12, 2018 (152)
84 ILLUMINA ss3639196122 Oct 12, 2018 (152)
85 ILLUMINA ss3639614926 Oct 12, 2018 (152)
86 ILLUMINA ss3643344870 Oct 12, 2018 (152)
87 URBANLAB ss3651187000 Oct 12, 2018 (152)
88 EGCUT_WGS ss3685862781 Jul 13, 2019 (153)
89 EVA_DECODE ss3708281110 Jul 13, 2019 (153)
90 ACPOP ss3743966716 Jul 13, 2019 (153)
91 EVA ss3759430740 Jul 13, 2019 (153)
92 PACBIO ss3788837102 Jul 13, 2019 (153)
93 PACBIO ss3793700532 Jul 13, 2019 (153)
94 PACBIO ss3798587008 Jul 13, 2019 (153)
95 KHV_HUMAN_GENOMES ss3822590494 Jul 13, 2019 (153)
96 EVA ss3836010734 Apr 27, 2020 (154)
97 EVA ss3841633809 Apr 27, 2020 (154)
98 EVA ss3847149025 Apr 27, 2020 (154)
99 HGDP ss3847690519 Apr 27, 2020 (154)
100 SGDP_PRJ ss3890631418 Apr 27, 2020 (154)
101 KRGDB ss3941026558 Apr 27, 2020 (154)
102 KOGIC ss3983727332 Apr 27, 2020 (154)
103 EVA ss3984761141 Apr 27, 2021 (155)
104 EVA ss3985920166 Apr 27, 2021 (155)
105 TOPMED ss5110662004 Apr 27, 2021 (155)
106 TOMMO_GENOMICS ss5232821417 Apr 27, 2021 (155)
107 1000G_HIGH_COVERAGE ss5311244273 Oct 16, 2022 (156)
108 EVA ss5441566735 Oct 16, 2022 (156)
109 HUGCELL_USP ss5503072761 Oct 16, 2022 (156)
110 EVA ss5512391624 Oct 16, 2022 (156)
111 1000G_HIGH_COVERAGE ss5618867915 Oct 16, 2022 (156)
112 SANFORD_IMAGENETICS ss5664570580 Oct 16, 2022 (156)
113 TOMMO_GENOMICS ss5794008066 Oct 16, 2022 (156)
114 EVA ss5800042324 Oct 16, 2022 (156)
115 YY_MCH ss5818745655 Oct 16, 2022 (156)
116 EVA ss5822127068 Oct 16, 2022 (156)
117 EVA ss5853408885 Oct 16, 2022 (156)
118 EVA ss5881982287 Oct 16, 2022 (156)
119 EVA ss5959428790 Oct 16, 2022 (156)
120 EVA ss5981138675 Oct 16, 2022 (156)
121 1000Genomes NC_000022.10 - 42063681 Oct 12, 2018 (152)
122 1000Genomes_30x NC_000022.11 - 41667677 Oct 16, 2022 (156)
123 The Avon Longitudinal Study of Parents and Children NC_000022.10 - 42063681 Oct 12, 2018 (152)
124 Genetic variation in the Estonian population NC_000022.10 - 42063681 Oct 12, 2018 (152)
125 The Danish reference pan genome NC_000022.10 - 42063681 Apr 27, 2020 (154)
126 gnomAD - Genomes NC_000022.11 - 41667677 Apr 27, 2021 (155)
127 Genome of the Netherlands Release 5 NC_000022.10 - 42063681 Apr 27, 2020 (154)
128 HGDP-CEPH-db Supplement 1 NC_000022.9 - 40393627 Apr 27, 2020 (154)
129 HapMap NC_000022.11 - 41667677 Apr 27, 2020 (154)
130 KOREAN population from KRGDB NC_000022.10 - 42063681 Apr 27, 2020 (154)
131 Korean Genome Project NC_000022.11 - 41667677 Apr 27, 2020 (154)
132 Northern Sweden NC_000022.10 - 42063681 Jul 13, 2019 (153)
133 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000022.10 - 42063681 Apr 27, 2021 (155)
134 CNV burdens in cranial meningiomas NC_000022.10 - 42063681 Apr 27, 2021 (155)
135 Qatari NC_000022.10 - 42063681 Apr 27, 2020 (154)
136 SGDP_PRJ NC_000022.10 - 42063681 Apr 27, 2020 (154)
137 Siberian NC_000022.10 - 42063681 Apr 27, 2020 (154)
138 8.3KJPN NC_000022.10 - 42063681 Apr 27, 2021 (155)
139 14KJPN NC_000022.11 - 41667677 Oct 16, 2022 (156)
140 TopMed NC_000022.11 - 41667677 Apr 27, 2021 (155)
141 UK 10K study - Twins NC_000022.10 - 42063681 Oct 12, 2018 (152)
142 A Vietnamese Genetic Variation Database NC_000022.10 - 42063681 Jul 13, 2019 (153)
143 ALFA NC_000022.11 - 41667677 Apr 27, 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)
rs60145081 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss2247661905 NC_000022.11:41667676:A:C NC_000022.11:41667676:A:C (self)
ss85052256, ss3639196122, ss3639614926 NC_000022.8:40388180:A:G NC_000022.11:41667676:A:G (self)
368411, ss91930008, ss112669084, ss114252507, ss117415662, ss160328258, ss168001906, ss169348618, ss172006693, ss204098930, ss208824025, ss255926846, ss283648147, ss287574659, ss292767351, ss479902429, ss825391303, ss1699461980, ss1713743793, ss3643344870, ss3847690519 NC_000022.9:40393626:A:G NC_000022.11:41667676:A:G (self)
80881584, 44740349, 31601029, 5931086, 19932883, 48203952, 17251581, 1146093, 310728, 21000120, 42648398, 11388271, 90790724, 44740349, 9867218, ss228697103, ss238081069, ss244196628, ss479910467, ss480529570, ss484749537, ss536844223, ss566665154, ss662594550, ss779032889, ss782821500, ss783786564, ss832074878, ss832764408, ss833355238, ss834495631, ss995390603, ss1082685621, ss1367323637, ss1429267284, ss1579766147, ss1640077225, ss1683071258, ss1809805200, ss1938958198, ss1969279037, ss2030251652, ss2158871917, ss2629622235, ss2704624821, ss2974854967, ss3019369979, ss3352854241, ss3628543852, ss3631834191, ss3633274491, ss3633990403, ss3636565648, ss3638385462, ss3685862781, ss3743966716, ss3759430740, ss3788837102, ss3793700532, ss3798587008, ss3836010734, ss3841633809, ss3890631418, ss3941026558, ss3984761141, ss3985920166, ss5232821417, ss5441566735, ss5512391624, ss5664570580, ss5800042324, ss5822127068, ss5959428790, ss5981138675 NC_000022.10:42063680:A:G NC_000022.11:41667676:A:G (self)
106393850, 571171670, 2262913, 40105333, 127845170, 385770951, 2510400859, ss2247661905, ss3028961856, ss3651187000, ss3708281110, ss3822590494, ss3847149025, ss3983727332, ss5110662004, ss5311244273, ss5503072761, ss5618867915, ss5794008066, ss5818745655, ss5853408885, ss5881982287 NC_000022.11:41667676:A:G NC_000022.11:41667676:A:G (self)
ss13362091, ss20142699 NT_011520.9:21372734:A:G NC_000022.11:41667676:A:G (self)
ss140598, ss8298509, ss65824562, ss66829033, ss67070357, ss67399509, ss70422029, ss70600769, ss71145873, ss75923301, ss83364333, ss96102265, ss106228577, ss121635311, ss138360025, ss143206745, ss153349002, ss157213592, ss159252148, ss170340771, ss172377441 NT_011520.12:21454249:A:G NC_000022.11:41667676:A:G (self)
48203952, ss3941026558 NC_000022.10:42063680:A:T NC_000022.11:41667676:A:T (self)
2510400859 NC_000022.11:41667676:A:T NC_000022.11:41667676: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.

4 citations for rs132793
PMID Title Author Year Journal
20496270 Analysis of the polymorphisms in non-homologous DNA end joining (NHEJ) gene Ku70 and Ligase IV in sporadic breast cancer in women. Sobczuk A et al. 2010 Polish journal of pathology
21972126 Telomere maintenance genes SIRT1 and XRCC6 impact age-related decline in telomere length but only SIRT1 is associated with human longevity. Kim S et al. 2012 Biogerontology
24062231 DNA double-strand break repair genotype and phenotype and breast cancer risk within sisters from the New York site of the Breast Cancer Family Registry (BCFR). Wu HC et al. 2013 Cancer causes & control
25569644 Association between the XRCC6 polymorphisms and cancer risks: a systematic review and meta-analysis. Jia J et al. 2015 Medicine
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
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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