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dbSNP Short Genetic Variations

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.

rs82

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:11565705 (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>A / T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.161064 (42632/264690, TOPMED)
T=0.21978 (13563/61712, ALFA)
T=0.18112 (5118/28258, 14KJPN) (+ 19 more)
T=0.17908 (3001/16758, 8.3KJPN)
T=0.1596 (1022/6404, 1000G_30x)
T=0.1647 (825/5008, 1000G)
T=0.2496 (1118/4480, Estonian)
T=0.2247 (866/3854, ALSPAC)
T=0.2238 (830/3708, TWINSUK)
T=0.2154 (631/2930, KOREAN)
T=0.1761 (367/2084, HGDP_Stanford)
T=0.1460 (276/1890, HapMap)
T=0.2134 (391/1832, Korea1K)
T=0.2491 (283/1136, Daghestan)
T=0.286 (285/998, GoNL)
T=0.252 (151/600, NorthernSweden)
T=0.152 (81/532, SGDP_PRJ)
T=0.139 (30/216, Qatari)
T=0.238 (50/210, Vietnamese)
T=0.12 (10/80, Ancient Sardinia)
T=0.17 (9/54, Siberian)
T=0.20 (8/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
THSD7A : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 61712 T=0.21978 A=0.00000, C=0.78022
European Sub 50078 T=0.23114 A=0.00000, C=0.76886
African Sub 4874 T=0.0829 A=0.0000, C=0.9171
African Others Sub 170 T=0.059 A=0.000, C=0.941
African American Sub 4704 T=0.0838 A=0.0000, C=0.9162
Asian Sub 92 T=0.28 A=0.00, C=0.72
East Asian Sub 74 T=0.31 A=0.00, C=0.69
Other Asian Sub 18 T=0.17 A=0.00, C=0.83
Latin American 1 Sub 112 T=0.232 A=0.000, C=0.768
Latin American 2 Sub 630 T=0.141 A=0.000, C=0.859
South Asian Sub 4870 T=0.2520 A=0.0000, C=0.7480
Other Sub 1056 T=0.2045 A=0.0000, C=0.7955


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=0.161064 C=0.838936
Allele Frequency Aggregator Total Global 61712 T=0.21978 A=0.00000, C=0.78022
Allele Frequency Aggregator European Sub 50078 T=0.23114 A=0.00000, C=0.76886
Allele Frequency Aggregator African Sub 4874 T=0.0829 A=0.0000, C=0.9171
Allele Frequency Aggregator South Asian Sub 4870 T=0.2520 A=0.0000, C=0.7480
Allele Frequency Aggregator Other Sub 1056 T=0.2045 A=0.0000, C=0.7955
Allele Frequency Aggregator Latin American 2 Sub 630 T=0.141 A=0.000, C=0.859
Allele Frequency Aggregator Latin American 1 Sub 112 T=0.232 A=0.000, C=0.768
Allele Frequency Aggregator Asian Sub 92 T=0.28 A=0.00, C=0.72
14KJPN JAPANESE Study-wide 28258 T=0.18112 C=0.81888
8.3KJPN JAPANESE Study-wide 16758 T=0.17908 C=0.82092
1000Genomes_30x Global Study-wide 6404 T=0.1596 C=0.8404
1000Genomes_30x African Sub 1786 T=0.0566 C=0.9434
1000Genomes_30x Europe Sub 1266 T=0.2101 C=0.7899
1000Genomes_30x South Asian Sub 1202 T=0.2421 C=0.7579
1000Genomes_30x East Asian Sub 1170 T=0.2282 C=0.7718
1000Genomes_30x American Sub 980 T=0.099 C=0.901
1000Genomes Global Study-wide 5008 T=0.1647 C=0.8353
1000Genomes African Sub 1322 T=0.0605 C=0.9395
1000Genomes East Asian Sub 1008 T=0.2302 C=0.7698
1000Genomes Europe Sub 1006 T=0.2038 C=0.7962
1000Genomes South Asian Sub 978 T=0.238 C=0.762
1000Genomes American Sub 694 T=0.108 C=0.892
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.2496 C=0.7504
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.2247 C=0.7753
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.2238 C=0.7762
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.2154 A=0.0000, C=0.7846
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 T=0.1761 C=0.8239
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 T=0.240 C=0.760
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 T=0.220 C=0.780
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 T=0.123 C=0.877
HGDP-CEPH-db Supplement 1 Europe Sub 320 T=0.216 C=0.784
HGDP-CEPH-db Supplement 1 Africa Sub 242 T=0.037 C=0.963
HGDP-CEPH-db Supplement 1 America Sub 216 T=0.014 C=0.986
HGDP-CEPH-db Supplement 1 Oceania Sub 72 T=0.54 C=0.46
HapMap Global Study-wide 1890 T=0.1460 C=0.8540
HapMap American Sub 768 T=0.190 C=0.810
HapMap African Sub 692 T=0.065 C=0.935
HapMap Asian Sub 254 T=0.201 C=0.799
HapMap Europe Sub 176 T=0.193 C=0.807
Korean Genome Project KOREAN Study-wide 1832 T=0.2134 C=0.7866
Genome-wide autozygosity in Daghestan Global Study-wide 1136 T=0.2491 C=0.7509
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.282 C=0.718
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.167 C=0.833
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.254 C=0.746
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.194 C=0.806
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.26 C=0.74
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.14 C=0.86
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.286 C=0.714
Northern Sweden ACPOP Study-wide 600 T=0.252 C=0.748
SGDP_PRJ Global Study-wide 532 T=0.152 C=0.848
Qatari Global Study-wide 216 T=0.139 C=0.861
A Vietnamese Genetic Variation Database Global Study-wide 210 T=0.238 C=0.762
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 80 T=0.12 C=0.88
Siberian Global Study-wide 54 T=0.17 C=0.83
The Danish reference pan genome Danish Study-wide 40 T=0.20 C=0.80
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 7 NC_000007.14:g.11565705T>A
GRCh38.p14 chr 7 NC_000007.14:g.11565705T>C
GRCh37.p13 chr 7 NC_000007.13:g.11605332T>A
GRCh37.p13 chr 7 NC_000007.13:g.11605332T>C
THSD7A RefSeqGene NG_027670.2:g.271493A>T
THSD7A RefSeqGene NG_027670.2:g.271493A>G
THSD7A RefSeqGene NG_027670.1:g.271493A>T
THSD7A RefSeqGene NG_027670.1:g.271493A>G
Gene: THSD7A, thrombospondin type 1 domain containing 7A (minus strand)
Molecule type Change Amino acid[Codon] SO Term
THSD7A transcript NM_015204.3:c.1454-22588A…

NM_015204.3:c.1454-22588A>T

N/A Intron Variant
THSD7A transcript variant X1 XM_006715659.2:c.1454-225…

XM_006715659.2:c.1454-22588A>T

N/A Intron Variant
THSD7A transcript variant X4 XM_006715660.2:c.1454-225…

XM_006715660.2:c.1454-22588A>T

N/A Intron Variant
THSD7A transcript variant X5 XM_006715662.2:c.1454-225…

XM_006715662.2:c.1454-22588A>T

N/A Intron Variant
THSD7A transcript variant X2 XM_047420039.1:c.1247-225…

XM_047420039.1:c.1247-22588A>T

N/A Intron Variant
THSD7A transcript variant X3 XM_047420040.1:c.1247-225…

XM_047420040.1:c.1247-22588A>T

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 T= A C
GRCh38.p14 chr 7 NC_000007.14:g.11565705= NC_000007.14:g.11565705T>A NC_000007.14:g.11565705T>C
GRCh37.p13 chr 7 NC_000007.13:g.11605332= NC_000007.13:g.11605332T>A NC_000007.13:g.11605332T>C
THSD7A RefSeqGene NG_027670.2:g.271493= NG_027670.2:g.271493A>T NG_027670.2:g.271493A>G
THSD7A RefSeqGene NG_027670.1:g.271493= NG_027670.1:g.271493A>T NG_027670.1:g.271493A>G
THSD7A transcript NM_015204.2:c.1454-22588= NM_015204.2:c.1454-22588A>T NM_015204.2:c.1454-22588A>G
THSD7A transcript NM_015204.3:c.1454-22588= NM_015204.3:c.1454-22588A>T NM_015204.3:c.1454-22588A>G
THSD7A transcript variant X1 XM_006715659.2:c.1454-22588= XM_006715659.2:c.1454-22588A>T XM_006715659.2:c.1454-22588A>G
THSD7A transcript variant X4 XM_006715660.2:c.1454-22588= XM_006715660.2:c.1454-22588A>T XM_006715660.2:c.1454-22588A>G
THSD7A transcript variant X5 XM_006715662.2:c.1454-22588= XM_006715662.2:c.1454-22588A>T XM_006715662.2:c.1454-22588A>G
THSD7A transcript variant X2 XM_047420039.1:c.1247-22588= XM_047420039.1:c.1247-22588A>T XM_047420039.1:c.1247-22588A>G
THSD7A transcript variant X3 XM_047420040.1:c.1247-22588= XM_047420040.1:c.1247-22588A>T XM_047420040.1:c.1247-22588A>G
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#.

106 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss81 Sep 19, 2000 (36)
2 WI_SSAHASNP ss11873351 Jul 11, 2003 (116)
3 WUGSC_SSAHASNP ss14589599 Dec 05, 2003 (120)
4 CSHL-HAPMAP ss19732897 Feb 27, 2004 (120)
5 SSAHASNP ss22636220 Apr 05, 2004 (121)
6 SSAHASNP ss22950056 Apr 05, 2004 (121)
7 PERLEGEN ss24372107 Sep 20, 2004 (123)
8 ILLUMINA ss67876696 Nov 29, 2006 (127)
9 ILLUMINA ss68019482 Nov 29, 2006 (127)
10 ILLUMINA ss68296635 Dec 12, 2006 (127)
11 ILLUMINA ss70972922 May 26, 2008 (130)
12 ILLUMINA ss71584114 May 16, 2007 (127)
13 ILLUMINA ss75777207 Dec 06, 2007 (129)
14 HGSV ss82629844 Dec 16, 2007 (130)
15 KRIBB_YJKIM ss83343946 Dec 16, 2007 (130)
16 HGSV ss84739213 Dec 16, 2007 (130)
17 BCMHGSC_JDW ss93628236 Mar 24, 2008 (129)
18 HUMANGENOME_JCVI ss98132687 Feb 06, 2009 (130)
19 BGI ss105492530 Feb 06, 2009 (130)
20 1000GENOMES ss111512632 Jan 25, 2009 (130)
21 1000GENOMES ss113308327 Jan 25, 2009 (130)
22 ILLUMINA-UK ss115929931 Feb 14, 2009 (130)
23 ENSEMBL ss143193234 Dec 01, 2009 (131)
24 ILLUMINA ss154471899 Dec 01, 2009 (131)
25 ILLUMINA ss159646431 Dec 01, 2009 (131)
26 COMPLETE_GENOMICS ss162049938 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss163638355 Jul 04, 2010 (132)
28 COMPLETE_GENOMICS ss166140033 Jul 04, 2010 (132)
29 ILLUMINA ss174738321 Jul 04, 2010 (132)
30 BUSHMAN ss202943047 Jul 04, 2010 (132)
31 BCM-HGSC-SUB ss208136863 Jul 04, 2010 (132)
32 1000GENOMES ss222903841 Jul 14, 2010 (132)
33 1000GENOMES ss233847451 Jul 15, 2010 (132)
34 1000GENOMES ss240827763 Jul 15, 2010 (132)
35 BL ss254050147 May 09, 2011 (134)
36 GMI ss279184081 May 04, 2012 (137)
37 GMI ss285574001 Apr 25, 2013 (138)
38 PJP ss293988683 May 09, 2011 (134)
39 ILLUMINA ss537561656 Sep 08, 2015 (146)
40 TISHKOFF ss559802814 Apr 25, 2013 (138)
41 SSMP ss654151286 Apr 25, 2013 (138)
42 ILLUMINA ss833157261 Aug 21, 2014 (142)
43 ILLUMINA ss833748089 Aug 21, 2014 (142)
44 EVA-GONL ss983943230 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1074355682 Aug 21, 2014 (142)
46 1000GENOMES ss1323908144 Aug 21, 2014 (142)
47 HAMMER_LAB ss1397483670 Sep 08, 2015 (146)
48 DDI ss1431026845 Apr 01, 2015 (144)
49 EVA_GENOME_DK ss1582068391 Apr 01, 2015 (144)
50 EVA_DECODE ss1593507522 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1617560537 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1660554570 Apr 01, 2015 (144)
53 EVA_SVP ss1712930717 Apr 01, 2015 (144)
54 HAMMER_LAB ss1804865011 Sep 08, 2015 (146)
55 WEILL_CORNELL_DGM ss1927188647 Feb 12, 2016 (147)
56 GENOMED ss1970622840 Jul 19, 2016 (147)
57 JJLAB ss2024265835 Sep 14, 2016 (149)
58 ILLUMINA ss2095194761 Dec 20, 2016 (150)
59 USC_VALOUEV ss2152464760 Dec 20, 2016 (150)
60 HUMAN_LONGEVITY ss2291619957 Dec 20, 2016 (150)
61 SYSTEMSBIOZJU ss2626622650 Nov 08, 2017 (151)
62 GRF ss2708115006 Nov 08, 2017 (151)
63 GNOMAD ss2849707487 Nov 08, 2017 (151)
64 SWEGEN ss3000619808 Nov 08, 2017 (151)
65 BIOINF_KMB_FNS_UNIBA ss3025926849 Nov 08, 2017 (151)
66 CSHL ss3347434266 Nov 08, 2017 (151)
67 ILLUMINA ss3629749569 Oct 12, 2018 (152)
68 ILLUMINA ss3638679840 Oct 12, 2018 (152)
69 ILLUMINA ss3639341850 Oct 12, 2018 (152)
70 ILLUMINA ss3639965761 Oct 12, 2018 (152)
71 ILLUMINA ss3643617324 Oct 12, 2018 (152)
72 ILLUMINA ss3644010119 Oct 12, 2018 (152)
73 URBANLAB ss3648561394 Oct 12, 2018 (152)
74 ILLUMINA ss3653234810 Oct 12, 2018 (152)
75 EGCUT_WGS ss3668538532 Jul 13, 2019 (153)
76 EVA_DECODE ss3719091512 Jul 13, 2019 (153)
77 ACPOP ss3734353244 Jul 13, 2019 (153)
78 EVA ss3766181622 Jul 13, 2019 (153)
79 PACBIO ss3785732982 Jul 13, 2019 (153)
80 PACBIO ss3791047241 Jul 13, 2019 (153)
81 PACBIO ss3795926938 Jul 13, 2019 (153)
82 KHV_HUMAN_GENOMES ss3809346954 Jul 13, 2019 (153)
83 EVA ss3830411404 Apr 26, 2020 (154)
84 EVA ss3838691790 Apr 26, 2020 (154)
85 EVA ss3844142468 Apr 26, 2020 (154)
86 HGDP ss3847865416 Apr 26, 2020 (154)
87 SGDP_PRJ ss3866619632 Apr 26, 2020 (154)
88 KRGDB ss3913646020 Apr 26, 2020 (154)
89 KOGIC ss3960878184 Apr 26, 2020 (154)
90 EVA ss3985276788 Apr 26, 2021 (155)
91 EVA ss4017320064 Apr 26, 2021 (155)
92 TOPMED ss4735401308 Apr 26, 2021 (155)
93 TOMMO_GENOMICS ss5181791462 Apr 26, 2021 (155)
94 1000G_HIGH_COVERAGE ss5271810310 Oct 14, 2022 (156)
95 EVA ss5371617541 Oct 14, 2022 (156)
96 HUGCELL_USP ss5469096200 Oct 14, 2022 (156)
97 EVA ss5508845165 Oct 14, 2022 (156)
98 1000G_HIGH_COVERAGE ss5559438870 Oct 14, 2022 (156)
99 SANFORD_IMAGENETICS ss5642333683 Oct 14, 2022 (156)
100 TOMMO_GENOMICS ss5721240830 Oct 14, 2022 (156)
101 YY_MCH ss5808329988 Oct 14, 2022 (156)
102 EVA ss5822402061 Oct 14, 2022 (156)
103 EVA ss5855759918 Oct 14, 2022 (156)
104 EVA ss5857684343 Oct 14, 2022 (156)
105 EVA ss5971523680 Oct 14, 2022 (156)
106 EVA ss5980417443 Oct 14, 2022 (156)
107 1000Genomes NC_000007.13 - 11605332 Oct 12, 2018 (152)
108 1000Genomes_30x NC_000007.14 - 11565705 Oct 14, 2022 (156)
109 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 11605332 Oct 12, 2018 (152)
110 Genome-wide autozygosity in Daghestan NC_000007.12 - 11571857 Apr 26, 2020 (154)
111 Genetic variation in the Estonian population NC_000007.13 - 11605332 Oct 12, 2018 (152)
112 The Danish reference pan genome NC_000007.13 - 11605332 Apr 26, 2020 (154)
113 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 252741315 (NC_000007.14:11565704:T:A 1/140128)
Row 252741316 (NC_000007.14:11565704:T:C 116251/140090)

- Apr 26, 2021 (155)
114 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 252741315 (NC_000007.14:11565704:T:A 1/140128)
Row 252741316 (NC_000007.14:11565704:T:C 116251/140090)

- Apr 26, 2021 (155)
115 Genome of the Netherlands Release 5 NC_000007.13 - 11605332 Apr 26, 2020 (154)
116 HGDP-CEPH-db Supplement 1 NC_000007.12 - 11571857 Apr 26, 2020 (154)
117 HapMap NC_000007.14 - 11565705 Apr 26, 2020 (154)
118 KOREAN population from KRGDB NC_000007.13 - 11605332 Apr 26, 2020 (154)
119 Korean Genome Project NC_000007.14 - 11565705 Apr 26, 2020 (154)
120 Northern Sweden NC_000007.13 - 11605332 Jul 13, 2019 (153)
121 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000007.13 - 11605332 Apr 26, 2021 (155)
122 Qatari NC_000007.13 - 11605332 Apr 26, 2020 (154)
123 SGDP_PRJ NC_000007.13 - 11605332 Apr 26, 2020 (154)
124 Siberian NC_000007.13 - 11605332 Apr 26, 2020 (154)
125 8.3KJPN NC_000007.13 - 11605332 Apr 26, 2021 (155)
126 14KJPN NC_000007.14 - 11565705 Oct 14, 2022 (156)
127 TopMed NC_000007.14 - 11565705 Apr 26, 2021 (155)
128 UK 10K study - Twins NC_000007.13 - 11605332 Oct 12, 2018 (152)
129 A Vietnamese Genetic Variation Database NC_000007.13 - 11605332 Jul 13, 2019 (153)
130 ALFA NC_000007.14 - 11565705 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)
rs10383995 Feb 27, 2004 (120)
rs17635820 Oct 08, 2004 (123)
rs61091099 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
20823414, ss3913646020 NC_000007.13:11605331:T:A NC_000007.14:11565704:T:A (self)
4131343130 NC_000007.14:11565704:T:A NC_000007.14:11565704:T:A (self)
ss82629844, ss84739213, ss3639341850, ss3639965761, ss3644010119 NC_000007.11:11378571:T:C NC_000007.14:11565704:T:C (self)
457969, 543308, ss93628236, ss111512632, ss113308327, ss115929931, ss162049938, ss163638355, ss166140033, ss202943047, ss208136863, ss254050147, ss279184081, ss285574001, ss293988683, ss1397483670, ss1593507522, ss1712930717, ss3643617324, ss3847865416 NC_000007.12:11571856:T:C NC_000007.14:11565704:T:C (self)
35835538, 19975625, 14276780, 8233330, 8901411, 20823414, 7638109, 502715, 9230577, 18636612, 4981114, 39760769, 19975625, 4446892, ss222903841, ss233847451, ss240827763, ss537561656, ss559802814, ss654151286, ss833157261, ss833748089, ss983943230, ss1074355682, ss1323908144, ss1431026845, ss1582068391, ss1617560537, ss1660554570, ss1804865011, ss1927188647, ss1970622840, ss2024265835, ss2095194761, ss2152464760, ss2626622650, ss2708115006, ss2849707487, ss3000619808, ss3347434266, ss3629749569, ss3638679840, ss3653234810, ss3668538532, ss3734353244, ss3766181622, ss3785732982, ss3791047241, ss3795926938, ss3830411404, ss3838691790, ss3866619632, ss3913646020, ss3985276788, ss4017320064, ss5181791462, ss5371617541, ss5508845165, ss5642333683, ss5822402061, ss5971523680, ss5980417443 NC_000007.13:11605331:T:C NC_000007.14:11565704:T:C (self)
46964805, 3333571, 17256185, 55077934, 572778867, 4131343130, ss2291619957, ss3025926849, ss3648561394, ss3719091512, ss3809346954, ss3844142468, ss3960878184, ss4735401308, ss5271810310, ss5469096200, ss5559438870, ss5721240830, ss5808329988, ss5855759918, ss5857684343 NC_000007.14:11565704:T:C NC_000007.14:11565704:T:C (self)
ss11873351 NT_007819.13:10901004:T:C NC_000007.14:11565704:T:C (self)
ss14589599, ss19732897, ss22636220, ss22950056 NT_007819.14:10901004:T:C NC_000007.14:11565704:T:C (self)
ss81, ss24372107, ss67876696, ss68019482, ss68296635, ss70972922, ss71584114, ss75777207, ss83343946, ss98132687, ss105492530, ss143193234, ss154471899, ss159646431, ss174738321 NT_007819.17:11595331:T:C NC_000007.14:11565704: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.

2 citations for rs82
PMID Title Author Year Journal
18805939 Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis. Tempfer CB et al. 2009 Human reproduction update
22099458 Common DISC1 polymorphisms disrupt Wnt/GSK3β signaling and brain development. Singh KK et al. 2011 Neuron
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