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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.

rs1004317

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr7:30917243 (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>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.470320 (124489/264690, TOPMED)
G=0.433570 (66285/152882, ALFA)
A=0.474106 (66390/140032, GnomAD) (+ 20 more)
A=0.41877 (32952/78688, PAGE_STUDY)
G=0.30144 (8518/28258, 14KJPN)
G=0.30439 (5101/16758, 8.3KJPN)
A=0.4344 (2782/6404, 1000G_30x)
A=0.4429 (2218/5008, 1000G)
G=0.3603 (1614/4480, Estonian)
G=0.3991 (1538/3854, ALSPAC)
G=0.3967 (1471/3708, TWINSUK)
G=0.3372 (988/2930, KOREAN)
G=0.4928 (1027/2084, HGDP_Stanford)
A=0.4133 (782/1892, HapMap)
G=0.3297 (604/1832, Korea1K)
G=0.415 (414/998, GoNL)
G=0.305 (183/600, NorthernSweden)
A=0.272 (111/408, SGDP_PRJ)
A=0.384 (83/216, Qatari)
G=0.319 (69/216, Vietnamese)
A=0.35 (28/80, Ancient Sardinia)
A=0.36 (15/42, Siberian)
G=0.40 (16/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AQP1 : 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 152882 A=0.566430 G=0.433570
European Sub 128782 A=0.591139 G=0.408861
African Sub 9732 A=0.1877 G=0.8123
African Others Sub 326 A=0.089 G=0.911
African American Sub 9406 A=0.1912 G=0.8088
Asian Sub 664 A=0.693 G=0.307
East Asian Sub 532 A=0.712 G=0.288
Other Asian Sub 132 A=0.614 G=0.386
Latin American 1 Sub 752 A=0.428 G=0.572
Latin American 2 Sub 6264 A=0.6592 G=0.3408
South Asian Sub 190 A=0.389 G=0.611
Other Sub 6498 A=0.5628 G=0.4372


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=0.470320 G=0.529680
Allele Frequency Aggregator Total Global 152882 A=0.566430 G=0.433570
Allele Frequency Aggregator European Sub 128782 A=0.591139 G=0.408861
Allele Frequency Aggregator African Sub 9732 A=0.1877 G=0.8123
Allele Frequency Aggregator Other Sub 6498 A=0.5628 G=0.4372
Allele Frequency Aggregator Latin American 2 Sub 6264 A=0.6592 G=0.3408
Allele Frequency Aggregator Latin American 1 Sub 752 A=0.428 G=0.572
Allele Frequency Aggregator Asian Sub 664 A=0.693 G=0.307
Allele Frequency Aggregator South Asian Sub 190 A=0.389 G=0.611
gnomAD - Genomes Global Study-wide 140032 A=0.474106 G=0.525894
gnomAD - Genomes European Sub 75838 A=0.59987 G=0.40013
gnomAD - Genomes African Sub 41946 A=0.18405 G=0.81595
gnomAD - Genomes American Sub 13650 A=0.58557 G=0.41443
gnomAD - Genomes Ashkenazi Jewish Sub 3324 A=0.6378 G=0.3622
gnomAD - Genomes East Asian Sub 3122 A=0.6355 G=0.3645
gnomAD - Genomes Other Sub 2152 A=0.5019 G=0.4981
The PAGE Study Global Study-wide 78688 A=0.41877 G=0.58123
The PAGE Study AfricanAmerican Sub 32516 A=0.19578 G=0.80422
The PAGE Study Mexican Sub 10810 A=0.64394 G=0.35606
The PAGE Study Asian Sub 8318 A=0.6950 G=0.3050
The PAGE Study PuertoRican Sub 7916 A=0.4910 G=0.5090
The PAGE Study NativeHawaiian Sub 4534 A=0.5876 G=0.4124
The PAGE Study Cuban Sub 4226 A=0.4941 G=0.5059
The PAGE Study Dominican Sub 3822 A=0.3621 G=0.6379
The PAGE Study CentralAmerican Sub 2450 A=0.6127 G=0.3873
The PAGE Study SouthAmerican Sub 1980 A=0.6167 G=0.3833
The PAGE Study NativeAmerican Sub 1260 A=0.5817 G=0.4183
The PAGE Study SouthAsian Sub 856 A=0.428 G=0.572
14KJPN JAPANESE Study-wide 28258 A=0.69856 G=0.30144
8.3KJPN JAPANESE Study-wide 16758 A=0.69561 G=0.30439
1000Genomes_30x Global Study-wide 6404 A=0.4344 G=0.5656
1000Genomes_30x African Sub 1786 A=0.0840 G=0.9160
1000Genomes_30x Europe Sub 1266 A=0.5845 G=0.4155
1000Genomes_30x South Asian Sub 1202 A=0.4351 G=0.5649
1000Genomes_30x East Asian Sub 1170 A=0.6504 G=0.3496
1000Genomes_30x American Sub 980 A=0.620 G=0.380
1000Genomes Global Study-wide 5008 A=0.4429 G=0.5571
1000Genomes African Sub 1322 A=0.0900 G=0.9100
1000Genomes East Asian Sub 1008 A=0.6488 G=0.3512
1000Genomes Europe Sub 1006 A=0.5815 G=0.4185
1000Genomes South Asian Sub 978 A=0.440 G=0.560
1000Genomes American Sub 694 A=0.620 G=0.380
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6397 G=0.3603
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6009 G=0.3991
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6033 G=0.3967
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.6628 G=0.3372, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.5072 G=0.4928
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.636 G=0.364
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.502 G=0.498
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.449 G=0.551
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.519 G=0.481
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.099 G=0.901
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.833 G=0.167
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.32 G=0.68
HapMap Global Study-wide 1892 A=0.4133 G=0.5867
HapMap American Sub 770 A=0.542 G=0.458
HapMap African Sub 692 A=0.130 G=0.870
HapMap Asian Sub 254 A=0.717 G=0.283
HapMap Europe Sub 176 A=0.528 G=0.472
Korean Genome Project KOREAN Study-wide 1832 A=0.6703 G=0.3297
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.585 G=0.415
Northern Sweden ACPOP Study-wide 600 A=0.695 G=0.305
SGDP_PRJ Global Study-wide 408 A=0.272 G=0.728
Qatari Global Study-wide 216 A=0.384 G=0.616
A Vietnamese Genetic Variation Database Global Study-wide 216 A=0.681 G=0.319
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 80 A=0.35 G=0.65
Siberian Global Study-wide 42 A=0.36 G=0.64
The Danish reference pan genome Danish Study-wide 40 A=0.60 G=0.40
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.30917243A>G
GRCh38.p14 chr 7 NC_000007.14:g.30917243A>T
GRCh37.p13 chr 7 NC_000007.13:g.30956858A>G
GRCh37.p13 chr 7 NC_000007.13:g.30956858A>T
Colton blood group RefSeqGene (LRG_808) NG_007475.2:g.68850A>G
Colton blood group RefSeqGene (LRG_808) NG_007475.2:g.68850A>T
Gene: AQP1, aquaporin 1 (Colton blood group) (plus strand)
Molecule type Change Amino acid[Codon] SO Term
AQP1 transcript variant 5 NM_001329872.2:c.385-4823…

NM_001329872.2:c.385-4823A>G

 		N/A Intron Variant
AQP1 transcript variant 1 NM_198098.4:c.385-4823A>G 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 A= G T
GRCh38.p14 chr 7 NC_000007.14:g.30917243= NC_000007.14:g.30917243A>G NC_000007.14:g.30917243A>T
GRCh37.p13 chr 7 NC_000007.13:g.30956858= NC_000007.13:g.30956858A>G NC_000007.13:g.30956858A>T
Colton blood group RefSeqGene (LRG_808) NG_007475.2:g.68850= NG_007475.2:g.68850A>G NG_007475.2:g.68850A>T
AQP1 transcript variant 5 NM_001329872.2:c.385-4823= NM_001329872.2:c.385-4823A>G NM_001329872.2:c.385-4823A>T
AQP1 transcript variant 1 NM_198098.2:c.385-4823= NM_198098.2:c.385-4823A>G NM_198098.2:c.385-4823A>T
AQP1 transcript variant 1 NM_198098.4:c.385-4823= NM_198098.4:c.385-4823A>G NM_198098.4:c.385-4823A>T
AQP1 transcript variant X1 XM_005249747.1:c.385-4823= XM_005249747.1:c.385-4823A>G XM_005249747.1:c.385-4823A>T
AQP1 transcript variant X2 XM_005249748.1:c.292-4823= XM_005249748.1:c.292-4823A>G XM_005249748.1:c.292-4823A>T
AQP1 transcript variant X3 XM_005249749.1:c.199-4823= XM_005249749.1:c.199-4823A>G XM_005249749.1:c.199-4823A>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#.

125 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 TSC-CSHL ss1465776 Oct 05, 2000 (86)
2 YUSUKE ss3201176 Sep 28, 2001 (100)
3 WI_SSAHASNP ss6509078 Feb 20, 2003 (111)
4 PERLEGEN ss24042731 Sep 20, 2004 (123)
5 ABI ss44829440 Mar 14, 2006 (126)
6 ILLUMINA ss66866057 Dec 02, 2006 (127)
7 ILLUMINA ss66937736 Dec 02, 2006 (127)
8 ILLUMINA ss68076131 Dec 12, 2006 (127)
9 PERLEGEN ss69011375 May 18, 2007 (127)
10 ILLUMINA ss70461453 May 27, 2008 (130)
11 ILLUMINA ss70982257 May 18, 2007 (127)
12 ILLUMINA ss75656033 Dec 06, 2007 (129)
13 HGSV ss78707849 Dec 06, 2007 (129)
14 KRIBB_YJKIM ss83652400 Dec 15, 2007 (130)
15 BCMHGSC_JDW ss93653642 Mar 24, 2008 (129)
16 BGI ss104414133 Dec 01, 2009 (131)
17 1000GENOMES ss111757292 Jan 25, 2009 (130)
18 1000GENOMES ss113535421 Jan 25, 2009 (130)
19 ILLUMINA-UK ss116009118 Feb 14, 2009 (130)
20 ENSEMBL ss142805912 Dec 01, 2009 (131)
21 GMI ss154579526 Dec 01, 2009 (131)
22 ILLUMINA ss159855492 Dec 01, 2009 (131)
23 COMPLETE_GENOMICS ss162181935 Jul 04, 2010 (132)
24 COMPLETE_GENOMICS ss163926875 Jul 04, 2010 (132)
25 COMPLETE_GENOMICS ss166365051 Jul 04, 2010 (132)
26 ILLUMINA ss169562500 Jul 04, 2010 (132)
27 BUSHMAN ss203140911 Jul 04, 2010 (132)
28 1000GENOMES ss222992443 Jul 14, 2010 (132)
29 1000GENOMES ss233912337 Jul 15, 2010 (132)
30 1000GENOMES ss240879614 Jul 15, 2010 (132)
31 ILLUMINA ss244267587 Jul 04, 2010 (132)
32 BL ss254159462 May 09, 2011 (134)
33 GMI ss279244967 May 04, 2012 (137)
34 GMI ss285599363 Apr 25, 2013 (138)
35 PJP ss294040240 May 09, 2011 (134)
36 ILLUMINA ss479166523 May 04, 2012 (137)
37 ILLUMINA ss479168438 May 04, 2012 (137)
38 ILLUMINA ss479488476 Sep 08, 2015 (146)
39 ILLUMINA ss484384415 May 04, 2012 (137)
40 ILLUMINA ss536568968 Sep 08, 2015 (146)
41 TISHKOFF ss559903795 Apr 25, 2013 (138)
42 SSMP ss654257652 Apr 25, 2013 (138)
43 ILLUMINA ss778344988 Aug 21, 2014 (142)
44 ILLUMINA ss782638514 Aug 21, 2014 (142)
45 ILLUMINA ss783608009 Aug 21, 2014 (142)
46 ILLUMINA ss831888658 Apr 01, 2015 (144)
47 ILLUMINA ss833799630 Aug 21, 2014 (142)
48 EVA-GONL ss984110688 Aug 21, 2014 (142)
49 JMKIDD_LAB ss1074485073 Aug 21, 2014 (142)
50 1000GENOMES ss1324514896 Aug 21, 2014 (142)
51 DDI ss1431073885 Apr 01, 2015 (144)
52 EVA_GENOME_DK ss1582134621 Apr 01, 2015 (144)
53 EVA_DECODE ss1593681685 Apr 01, 2015 (144)
54 EVA_UK10K_ALSPAC ss1617886255 Apr 01, 2015 (144)
55 EVA_UK10K_TWINSUK ss1660880288 Apr 01, 2015 (144)
56 EVA_SVP ss1712943772 Apr 01, 2015 (144)
57 ILLUMINA ss1752682092 Sep 08, 2015 (146)
58 HAMMER_LAB ss1804936494 Sep 08, 2015 (146)
59 WEILL_CORNELL_DGM ss1927353853 Feb 12, 2016 (147)
60 ILLUMINA ss1959000423 Feb 12, 2016 (147)
61 GENOMED ss1970661784 Jul 19, 2016 (147)
62 JJLAB ss2024356275 Sep 14, 2016 (149)
63 USC_VALOUEV ss2152551970 Dec 20, 2016 (150)
64 HUMAN_LONGEVITY ss2292871046 Dec 20, 2016 (150)
65 SYSTEMSBIOZJU ss2626666175 Nov 08, 2017 (151)
66 ILLUMINA ss2634587638 Nov 08, 2017 (151)
67 GRF ss2708209913 Nov 08, 2017 (151)
68 GNOMAD ss2851407414 Nov 08, 2017 (151)
69 SWEGEN ss3000863709 Nov 08, 2017 (151)
70 ILLUMINA ss3022722415 Nov 08, 2017 (151)
71 BIOINF_KMB_FNS_UNIBA ss3025972302 Nov 08, 2017 (151)
72 CSHL ss3347508497 Nov 08, 2017 (151)
73 ILLUMINA ss3629784898 Oct 12, 2018 (152)
74 ILLUMINA ss3632496030 Oct 12, 2018 (152)
75 ILLUMINA ss3633458296 Oct 12, 2018 (152)
76 ILLUMINA ss3634182975 Oct 12, 2018 (152)
77 ILLUMINA ss3635115106 Oct 12, 2018 (152)
78 ILLUMINA ss3635862909 Oct 12, 2018 (152)
79 ILLUMINA ss3636846590 Oct 12, 2018 (152)
80 ILLUMINA ss3637615858 Oct 12, 2018 (152)
81 ILLUMINA ss3638689244 Oct 12, 2018 (152)
82 ILLUMINA ss3639347217 Oct 12, 2018 (152)
83 ILLUMINA ss3639968417 Oct 12, 2018 (152)
84 ILLUMINA ss3640822402 Oct 12, 2018 (152)
85 ILLUMINA ss3643625951 Oct 12, 2018 (152)
86 ILLUMINA ss3644012649 Oct 12, 2018 (152)
87 ILLUMINA ss3653252270 Oct 12, 2018 (152)
88 EGCUT_WGS ss3668792898 Jul 13, 2019 (153)
89 EVA_DECODE ss3719388889 Jul 13, 2019 (153)
90 ILLUMINA ss3726433263 Jul 13, 2019 (153)
91 ACPOP ss3734489884 Jul 13, 2019 (153)
92 ILLUMINA ss3745415063 Jul 13, 2019 (153)
93 EVA ss3766369511 Jul 13, 2019 (153)
94 PAGE_CC ss3771361429 Jul 13, 2019 (153)
95 ILLUMINA ss3772908153 Jul 13, 2019 (153)
96 KHV_HUMAN_GENOMES ss3809535263 Jul 13, 2019 (153)
97 EVA ss3830492305 Apr 26, 2020 (154)
98 EVA ss3838733406 Apr 26, 2020 (154)
99 EVA ss3844184872 Apr 26, 2020 (154)
100 HGDP ss3847871844 Apr 26, 2020 (154)
101 SGDP_PRJ ss3866942803 Apr 26, 2020 (154)
102 KRGDB ss3913988019 Apr 26, 2020 (154)
103 KOGIC ss3961162493 Apr 26, 2020 (154)
104 EVA ss3985287196 Apr 26, 2021 (155)
105 EVA ss4017328662 Apr 26, 2021 (155)
106 TOPMED ss4740657716 Apr 26, 2021 (155)
107 TOMMO_GENOMICS ss5182459673 Apr 26, 2021 (155)
108 EVA ss5237418403 Apr 26, 2021 (155)
109 1000G_HIGH_COVERAGE ss5272339922 Oct 14, 2022 (156)
110 EVA ss5315237158 Oct 14, 2022 (156)
111 EVA ss5372580726 Oct 14, 2022 (156)
112 HUGCELL_USP ss5469574909 Oct 14, 2022 (156)
113 1000G_HIGH_COVERAGE ss5560237673 Oct 14, 2022 (156)
114 SANFORD_IMAGENETICS ss5624659127 Oct 14, 2022 (156)
115 SANFORD_IMAGENETICS ss5642639410 Oct 14, 2022 (156)
116 TOMMO_GENOMICS ss5722096889 Oct 14, 2022 (156)
117 EVA ss5799720518 Oct 14, 2022 (156)
118 YY_MCH ss5808464141 Oct 14, 2022 (156)
119 EVA ss5822609437 Oct 14, 2022 (156)
120 EVA ss5847315508 Oct 14, 2022 (156)
121 EVA ss5848133464 Oct 14, 2022 (156)
122 EVA ss5855827360 Oct 14, 2022 (156)
123 EVA ss5858294775 Oct 14, 2022 (156)
124 EVA ss5971845481 Oct 14, 2022 (156)
125 EVA ss5979821780 Oct 14, 2022 (156)
126 1000Genomes NC_000007.13 - 30956858 Oct 12, 2018 (152)
127 1000Genomes_30x NC_000007.14 - 30917243 Oct 14, 2022 (156)
128 The Avon Longitudinal Study of Parents and Children NC_000007.13 - 30956858 Oct 12, 2018 (152)
129 Genetic variation in the Estonian population NC_000007.13 - 30956858 Oct 12, 2018 (152)
130 The Danish reference pan genome NC_000007.13 - 30956858 Apr 26, 2020 (154)
131 gnomAD - Genomes NC_000007.14 - 30917243 Apr 26, 2021 (155)
132 Genome of the Netherlands Release 5 NC_000007.13 - 30956858 Apr 26, 2020 (154)
133 HGDP-CEPH-db Supplement 1 NC_000007.12 - 30923383 Apr 26, 2020 (154)
134 HapMap NC_000007.14 - 30917243 Apr 26, 2020 (154)
135 KOREAN population from KRGDB NC_000007.13 - 30956858 Apr 26, 2020 (154)
136 Korean Genome Project NC_000007.14 - 30917243 Apr 26, 2020 (154)
137 Northern Sweden NC_000007.13 - 30956858 Jul 13, 2019 (153)
138 The PAGE Study NC_000007.14 - 30917243 Jul 13, 2019 (153)
139 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000007.13 - 30956858 Apr 26, 2021 (155)
140 Qatari NC_000007.13 - 30956858 Apr 26, 2020 (154)
141 SGDP_PRJ NC_000007.13 - 30956858 Apr 26, 2020 (154)
142 Siberian NC_000007.13 - 30956858 Apr 26, 2020 (154)
143 8.3KJPN NC_000007.13 - 30956858 Apr 26, 2021 (155)
144 14KJPN NC_000007.14 - 30917243 Oct 14, 2022 (156)
145 TopMed NC_000007.14 - 30917243 Apr 26, 2021 (155)
146 UK 10K study - Twins NC_000007.13 - 30956858 Oct 12, 2018 (152)
147 A Vietnamese Genetic Variation Database NC_000007.13 - 30956858 Jul 13, 2019 (153)
148 ALFA NC_000007.14 - 30917243 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)
rs58617782 May 24, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78707849, ss3639347217, ss3639968417, ss3644012649 NC_000007.11:30730097:A:G NC_000007.14:30917242:A:G (self)
549736, ss93653642, ss111757292, ss113535421, ss116009118, ss159855492, ss162181935, ss163926875, ss166365051, ss203140911, ss244267587, ss254159462, ss279244967, ss285599363, ss294040240, ss479166523, ss1593681685, ss1712943772, ss3643625951, ss3847871844 NC_000007.12:30923382:A:G NC_000007.14:30917242:A:G (self)
36463162, 20331358, 14531146, 8299560, 9065239, 21165413, 7774749, 513123, 9395783, 18959783, 5068324, 40428980, 20331358, 4529630, ss222992443, ss233912337, ss240879614, ss479168438, ss479488476, ss484384415, ss536568968, ss559903795, ss654257652, ss778344988, ss782638514, ss783608009, ss831888658, ss833799630, ss984110688, ss1074485073, ss1324514896, ss1431073885, ss1582134621, ss1617886255, ss1660880288, ss1752682092, ss1804936494, ss1927353853, ss1959000423, ss1970661784, ss2024356275, ss2152551970, ss2626666175, ss2634587638, ss2708209913, ss2851407414, ss3000863709, ss3022722415, ss3347508497, ss3629784898, ss3632496030, ss3633458296, ss3634182975, ss3635115106, ss3635862909, ss3636846590, ss3637615858, ss3638689244, ss3640822402, ss3653252270, ss3668792898, ss3734489884, ss3745415063, ss3766369511, ss3772908153, ss3830492305, ss3838733406, ss3866942803, ss3913988019, ss3985287196, ss4017328662, ss5182459673, ss5237418403, ss5315237158, ss5372580726, ss5624659127, ss5642639410, ss5799720518, ss5822609437, ss5847315508, ss5848133464, ss5971845481, ss5979821780 NC_000007.13:30956857:A:G NC_000007.14:30917242:A:G (self)
47763608, 257094596, 3369822, 17540494, 582898, 55933993, 578035275, 11209299557, ss2292871046, ss3025972302, ss3719388889, ss3726433263, ss3771361429, ss3809535263, ss3844184872, ss3961162493, ss4740657716, ss5272339922, ss5469574909, ss5560237673, ss5722096889, ss5808464141, ss5855827360, ss5858294775 NC_000007.14:30917242:A:G NC_000007.14:30917242:A:G (self)
ss1465776, ss3201176, ss6509078, ss24042731, ss44829440, ss66866057, ss66937736, ss68076131, ss69011375, ss70461453, ss70982257, ss75656033, ss83652400, ss104414133, ss142805912, ss154579526, ss169562500 NT_007819.17:30946857:A:G NC_000007.14:30917242:A:G (self)
21165413, ss3913988019 NC_000007.13:30956857:A:T NC_000007.14:30917242: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.

2 citations for rs1004317
PMID Title Author Year Journal
20101282 AQP1 and SLC4A10 as candidate genes for primary open-angle glaucoma. Liu W et al. 2010 Molecular vision
20360993 Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness. Dimasi DP et al. 2010 Molecular vision
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