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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.

rs10089

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:128186851 (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
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.209838 (68120/324632, ALFA)
T=0.219479 (58094/264690, TOPMED)
T=0.209162 (29296/140064, GnomAD) (+ 21 more)
T=0.24604 (19364/78702, PAGE_STUDY)
T=0.35845 (10129/28258, 14KJPN)
T=0.35871 (6012/16760, 8.3KJPN)
T=0.2458 (1574/6404, 1000G_30x)
T=0.2440 (1222/5008, 1000G)
T=0.2192 (982/4480, Estonian)
T=0.2229 (859/3854, ALSPAC)
T=0.2050 (760/3708, TWINSUK)
T=0.3962 (1161/2930, KOREAN)
T=0.2821 (588/2084, HGDP_Stanford)
T=0.2500 (473/1892, HapMap)
T=0.3646 (668/1832, Korea1K)
T=0.210 (210/998, GoNL)
T=0.217 (130/600, NorthernSweden)
T=0.180 (96/534, MGP)
C=0.399 (115/288, SGDP_PRJ)
T=0.204 (44/216, Qatari)
T=0.294 (63/214, Vietnamese)
T=0.17 (7/40, GENOME_DK)
C=0.35 (14/40, Siberian)
T=0.25 (6/24, Ancient Sardinia)
Clinical Significance
Reported in ClinVar
Gene : Consequence
SLC12A2 : Non Coding Transcript Variant
Publications
3 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 329880 C=0.790193 A=0.000000, T=0.209807
European Sub 288718 C=0.794003 A=0.000000, T=0.205997
African Sub 8666 C=0.8313 A=0.0000, T=0.1687
African Others Sub 352 C=0.852 A=0.000, T=0.148
African American Sub 8314 C=0.8304 A=0.0000, T=0.1696
Asian Sub 6612 C=0.6537 A=0.0000, T=0.3463
East Asian Sub 4706 C=0.6322 A=0.0000, T=0.3678
Other Asian Sub 1906 C=0.7067 A=0.0000, T=0.2933
Latin American 1 Sub 1042 C=0.8177 A=0.0000, T=0.1823
Latin American 2 Sub 2990 C=0.6793 A=0.0000, T=0.3207
South Asian Sub 5206 C=0.7943 A=0.0000, T=0.2057
Other Sub 16646 C=0.77388 A=0.00000, T=0.22612


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
Allele Frequency Aggregator Total Global 324632 C=0.790162 A=0.000000, T=0.209838
Allele Frequency Aggregator European Sub 285448 C=0.794022 A=0.000000, T=0.205978
Allele Frequency Aggregator Other Sub 15824 C=0.77471 A=0.00000, T=0.22529
Allele Frequency Aggregator African Sub 7510 C=0.8337 A=0.0000, T=0.1663
Allele Frequency Aggregator Asian Sub 6612 C=0.6537 A=0.0000, T=0.3463
Allele Frequency Aggregator South Asian Sub 5206 C=0.7943 A=0.0000, T=0.2057
Allele Frequency Aggregator Latin American 2 Sub 2990 C=0.6793 A=0.0000, T=0.3207
Allele Frequency Aggregator Latin American 1 Sub 1042 C=0.8177 A=0.0000, T=0.1823
TopMed Global Study-wide 264690 C=0.780521 T=0.219479
gnomAD - Genomes Global Study-wide 140064 C=0.790838 T=0.209162
gnomAD - Genomes European Sub 75866 C=0.79121 T=0.20879
gnomAD - Genomes African Sub 41954 C=0.82505 T=0.17495
gnomAD - Genomes American Sub 13642 C=0.71265 T=0.28735
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=0.7786 T=0.2214
gnomAD - Genomes East Asian Sub 3126 C=0.6833 T=0.3167
gnomAD - Genomes Other Sub 2152 C=0.7816 T=0.2184
The PAGE Study Global Study-wide 78702 C=0.75396 T=0.24604
The PAGE Study AfricanAmerican Sub 32516 C=0.81843 T=0.18157
The PAGE Study Mexican Sub 10810 C=0.65476 T=0.34524
The PAGE Study Asian Sub 8318 C=0.6702 T=0.3298
The PAGE Study PuertoRican Sub 7918 C=0.7825 T=0.2175
The PAGE Study NativeHawaiian Sub 4534 C=0.6206 T=0.3794
The PAGE Study Cuban Sub 4230 C=0.7955 T=0.2045
The PAGE Study Dominican Sub 3828 C=0.8255 T=0.1745
The PAGE Study CentralAmerican Sub 2450 C=0.6722 T=0.3278
The PAGE Study SouthAmerican Sub 1982 C=0.6609 T=0.3391
The PAGE Study NativeAmerican Sub 1260 C=0.7373 T=0.2627
The PAGE Study SouthAsian Sub 856 C=0.762 T=0.238
14KJPN JAPANESE Study-wide 28258 C=0.64155 T=0.35845
8.3KJPN JAPANESE Study-wide 16760 C=0.64129 T=0.35871
1000Genomes_30x Global Study-wide 6404 C=0.7542 T=0.2458
1000Genomes_30x African Sub 1786 C=0.8135 T=0.1865
1000Genomes_30x Europe Sub 1266 C=0.8057 T=0.1943
1000Genomes_30x South Asian Sub 1202 C=0.7737 T=0.2263
1000Genomes_30x East Asian Sub 1170 C=0.6769 T=0.3231
1000Genomes_30x American Sub 980 C=0.648 T=0.352
1000Genomes Global Study-wide 5008 C=0.7560 T=0.2440
1000Genomes African Sub 1322 C=0.8094 T=0.1906
1000Genomes East Asian Sub 1008 C=0.6786 T=0.3214
1000Genomes Europe Sub 1006 C=0.8091 T=0.1909
1000Genomes South Asian Sub 978 C=0.785 T=0.215
1000Genomes American Sub 694 C=0.648 T=0.352
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.7808 T=0.2192
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.7771 T=0.2229
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.7950 T=0.2050
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.6038 T=0.3962
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.7179 T=0.2821
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=0.602 T=0.398
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.739 T=0.261
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.837 T=0.163
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.812 T=0.188
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.851 T=0.149
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.472 T=0.528
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=0.64 T=0.36
HapMap Global Study-wide 1892 C=0.7500 T=0.2500
HapMap American Sub 770 C=0.762 T=0.238
HapMap African Sub 692 C=0.751 T=0.249
HapMap Asian Sub 254 C=0.646 T=0.354
HapMap Europe Sub 176 C=0.841 T=0.159
Korean Genome Project KOREAN Study-wide 1832 C=0.6354 T=0.3646
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.790 T=0.210
Northern Sweden ACPOP Study-wide 600 C=0.783 T=0.217
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.820 T=0.180
SGDP_PRJ Global Study-wide 288 C=0.399 T=0.601
Qatari Global Study-wide 216 C=0.796 T=0.204
A Vietnamese Genetic Variation Database Global Study-wide 214 C=0.706 T=0.294
The Danish reference pan genome Danish Study-wide 40 C=0.82 T=0.17
Siberian Global Study-wide 40 C=0.35 T=0.65
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 24 C=0.75 T=0.25
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.128186851C>A
GRCh38.p14 chr 5 NC_000005.10:g.128186851C>T
GRCh37.p13 chr 5 NC_000005.9:g.127522543C>A
GRCh37.p13 chr 5 NC_000005.9:g.127522543C>T
SLC12A2 RefSeqGene NG_042286.1:g.108061C>A
SLC12A2 RefSeqGene NG_042286.1:g.108061C>T
Gene: SLC12A2, solute carrier family 12 member 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SLC12A2 transcript variant 1 NM_001046.3:c.*220= N/A 3 Prime UTR Variant
SLC12A2 transcript variant 2 NM_001256461.2:c.*220= N/A 3 Prime UTR Variant
SLC12A2 transcript variant 3 NR_046207.2:n.4114C>A N/A Non Coding Transcript Variant
SLC12A2 transcript variant 3 NR_046207.2:n.4114C>T N/A Non Coding Transcript Variant
SLC12A2 transcript variant X2 XM_011543588.3:c. N/A Genic Downstream Transcript Variant
SLC12A2 transcript variant X1 XM_047417591.1:c. N/A Genic Downstream Transcript Variant
SLC12A2 transcript variant X3 XM_047417592.1:c. N/A Genic Downstream Transcript 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.

Allele: T (allele ID: 1284535 )
ClinVar Accession Disease Names Clinical Significance
RCV001720643.1 not provided Benign
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 C= A T
GRCh38.p14 chr 5 NC_000005.10:g.128186851= NC_000005.10:g.128186851C>A NC_000005.10:g.128186851C>T
GRCh37.p13 chr 5 NC_000005.9:g.127522543= NC_000005.9:g.127522543C>A NC_000005.9:g.127522543C>T
SLC12A2 RefSeqGene NG_042286.1:g.108061= NG_042286.1:g.108061C>A NG_042286.1:g.108061C>T
SLC12A2 transcript variant 1 NM_001046.3:c.*220= NM_001046.3:c.*220C>A NM_001046.3:c.*220C>T
SLC12A2 transcript variant 1 NM_001046.2:c.*220= NM_001046.2:c.*220C>A NM_001046.2:c.*220C>T
SLC12A2 transcript variant 3 NR_046207.2:n.4114= NR_046207.2:n.4114C>A NR_046207.2:n.4114C>T
SLC12A2 transcript variant 3 NR_046207.1:n.4089= NR_046207.1:n.4089C>A NR_046207.1:n.4089C>T
SLC12A2 transcript variant 2 NM_001256461.2:c.*220= NM_001256461.2:c.*220C>A NM_001256461.2:c.*220C>T
SLC12A2 transcript variant 2 NM_001256461.1:c.*220= NM_001256461.1:c.*220C>A NM_001256461.1:c.*220C>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#.

150 SubSNP, 24 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 CGAP-GAI ss12229 Sep 19, 2000 (52)
2 LEE ss1530979 Oct 04, 2000 (86)
3 LEE ss4420302 May 29, 2002 (106)
4 YUSUKE ss4935776 Aug 28, 2002 (108)
5 WI_SSAHASNP ss6679515 Feb 20, 2003 (111)
6 CGAP-GAI ss16226928 Feb 27, 2004 (120)
7 PERLEGEN ss24191265 Sep 20, 2004 (123)
8 ILLUMINA ss66761979 Nov 29, 2006 (127)
9 ILLUMINA ss66868770 Nov 29, 2006 (127)
10 ILLUMINA ss66943732 Nov 29, 2006 (127)
11 ILLUMINA ss70358378 May 16, 2007 (127)
12 ILLUMINA ss70464203 May 23, 2008 (130)
13 ILLUMINA ss70985299 May 16, 2007 (127)
14 ILLUMINA ss75787351 Dec 07, 2007 (129)
15 KRIBB_YJKIM ss83349409 Dec 14, 2007 (130)
16 BGI ss104238374 Dec 01, 2009 (131)
17 1000GENOMES ss109408606 Jan 24, 2009 (130)
18 ILLUMINA ss121262177 Dec 01, 2009 (131)
19 ILLUMINA ss152564649 Dec 01, 2009 (131)
20 GMI ss156013561 Dec 01, 2009 (131)
21 ILLUMINA ss159108150 Dec 01, 2009 (131)
22 ILLUMINA ss159861668 Dec 01, 2009 (131)
23 COMPLETE_GENOMICS ss167067885 Jul 04, 2010 (132)
24 ILLUMINA ss169251701 Jul 04, 2010 (132)
25 ILLUMINA ss169645571 Jul 04, 2010 (132)
26 BUSHMAN ss200847119 Jul 04, 2010 (132)
27 1000GENOMES ss211711571 Jul 14, 2010 (132)
28 1000GENOMES ss221955718 Jul 14, 2010 (132)
29 1000GENOMES ss233143142 Jul 14, 2010 (132)
30 1000GENOMES ss240265304 Jul 15, 2010 (132)
31 BL ss253800165 May 09, 2011 (134)
32 GMI ss278475179 May 04, 2012 (137)
33 ILLUMINA ss479182566 May 04, 2012 (137)
34 ILLUMINA ss479184733 May 04, 2012 (137)
35 ILLUMINA ss479513058 Sep 08, 2015 (146)
36 ILLUMINA ss484392310 May 04, 2012 (137)
37 EXOME_CHIP ss491370362 May 04, 2012 (137)
38 ILLUMINA ss536574592 Sep 08, 2015 (146)
39 TISHKOFF ss558702697 Apr 25, 2013 (138)
40 SSMP ss652600010 Apr 25, 2013 (138)
41 ILLUMINA ss778346754 Sep 08, 2015 (146)
42 ILLUMINA ss780680296 Sep 08, 2015 (146)
43 ILLUMINA ss782642514 Sep 08, 2015 (146)
44 ILLUMINA ss783353570 Sep 08, 2015 (146)
45 ILLUMINA ss783611917 Sep 08, 2015 (146)
46 ILLUMINA ss825328109 Apr 01, 2015 (144)
47 ILLUMINA ss831892732 Sep 08, 2015 (146)
48 ILLUMINA ss832620921 Jul 13, 2019 (153)
49 ILLUMINA ss833801416 Sep 08, 2015 (146)
50 EVA-GONL ss982103528 Aug 21, 2014 (142)
51 JMKIDD_LAB ss1073028951 Aug 21, 2014 (142)
52 1000GENOMES ss1317133008 Aug 21, 2014 (142)
53 DDI ss1430498374 Apr 01, 2015 (144)
54 EVA_GENOME_DK ss1581344339 Apr 01, 2015 (144)
55 EVA_DECODE ss1591629114 Apr 01, 2015 (144)
56 EVA_UK10K_ALSPAC ss1613966867 Apr 01, 2015 (144)
57 EVA_UK10K_TWINSUK ss1656960900 Apr 01, 2015 (144)
58 EVA_MGP ss1711096570 Apr 01, 2015 (144)
59 EVA_SVP ss1712798808 Apr 01, 2015 (144)
60 ILLUMINA ss1752547345 Sep 08, 2015 (146)
61 ILLUMINA ss1752547346 Sep 08, 2015 (146)
62 HAMMER_LAB ss1804074332 Sep 08, 2015 (146)
63 ILLUMINA ss1917793362 Feb 12, 2016 (147)
64 WEILL_CORNELL_DGM ss1925360539 Feb 12, 2016 (147)
65 ILLUMINA ss1946154396 Feb 12, 2016 (147)
66 ILLUMINA ss1946154397 Feb 12, 2016 (147)
67 ILLUMINA ss1958820781 Feb 12, 2016 (147)
68 ILLUMINA ss1958820782 Feb 12, 2016 (147)
69 GENOMED ss1970205262 Jul 19, 2016 (147)
70 JJLAB ss2023286755 Sep 14, 2016 (149)
71 USC_VALOUEV ss2151442628 Dec 20, 2016 (150)
72 HUMAN_LONGEVITY ss2277971928 Dec 20, 2016 (150)
73 SYSTEMSBIOZJU ss2626132467 Nov 08, 2017 (151)
74 ILLUMINA ss2634337603 Nov 08, 2017 (151)
75 ILLUMINA ss2634337604 Nov 08, 2017 (151)
76 ILLUMINA ss2634337605 Nov 08, 2017 (151)
77 GRF ss2707004909 Nov 08, 2017 (151)
78 ILLUMINA ss2711048171 Nov 08, 2017 (151)
79 GNOMAD ss2830523745 Nov 08, 2017 (151)
80 AFFY ss2985333570 Nov 08, 2017 (151)
81 SWEGEN ss2997760274 Nov 08, 2017 (151)
82 ILLUMINA ss3022527766 Nov 08, 2017 (151)
83 BIOINF_KMB_FNS_UNIBA ss3025426162 Nov 08, 2017 (151)
84 CSHL ss3346619996 Nov 08, 2017 (151)
85 ILLUMINA ss3625883166 Oct 12, 2018 (152)
86 ILLUMINA ss3629336845 Oct 12, 2018 (152)
87 ILLUMINA ss3629336846 Oct 12, 2018 (152)
88 ILLUMINA ss3632261834 Oct 12, 2018 (152)
89 ILLUMINA ss3633389249 Oct 12, 2018 (152)
90 ILLUMINA ss3634110391 Oct 12, 2018 (152)
91 ILLUMINA ss3635020832 Oct 12, 2018 (152)
92 ILLUMINA ss3635020833 Oct 12, 2018 (152)
93 ILLUMINA ss3635792151 Oct 12, 2018 (152)
94 ILLUMINA ss3636734369 Oct 12, 2018 (152)
95 ILLUMINA ss3637544788 Oct 12, 2018 (152)
96 ILLUMINA ss3638579075 Oct 12, 2018 (152)
97 ILLUMINA ss3639292447 Oct 12, 2018 (152)
98 ILLUMINA ss3639670384 Oct 12, 2018 (152)
99 ILLUMINA ss3640728126 Oct 12, 2018 (152)
100 ILLUMINA ss3640728127 Oct 12, 2018 (152)
101 ILLUMINA ss3643523147 Oct 12, 2018 (152)
102 ILLUMINA ss3644887399 Oct 12, 2018 (152)
103 ILLUMINA ss3644887400 Oct 12, 2018 (152)
104 OMUKHERJEE_ADBS ss3646324105 Oct 12, 2018 (152)
105 ILLUMINA ss3653028278 Oct 12, 2018 (152)
106 ILLUMINA ss3654105982 Oct 12, 2018 (152)
107 EGCUT_WGS ss3665670630 Jul 13, 2019 (153)
108 EVA_DECODE ss3715662407 Jul 13, 2019 (153)
109 ILLUMINA ss3726268739 Jul 13, 2019 (153)
110 ACPOP ss3732800872 Jul 13, 2019 (153)
111 ILLUMINA ss3744259476 Jul 13, 2019 (153)
112 ILLUMINA ss3744539237 Jul 13, 2019 (153)
113 ILLUMINA ss3745321031 Jul 13, 2019 (153)
114 ILLUMINA ss3745321032 Jul 13, 2019 (153)
115 EVA ss3764037057 Jul 13, 2019 (153)
116 PAGE_CC ss3771229644 Jul 13, 2019 (153)
117 ILLUMINA ss3772815062 Jul 13, 2019 (153)
118 ILLUMINA ss3772815063 Jul 13, 2019 (153)
119 PACBIO ss3785245578 Jul 13, 2019 (153)
120 PACBIO ss3790630408 Jul 13, 2019 (153)
121 PACBIO ss3795507331 Jul 13, 2019 (153)
122 KHV_HUMAN_GENOMES ss3807212016 Jul 13, 2019 (153)
123 EVA ss3825679098 Apr 26, 2020 (154)
124 EVA ss3829496065 Apr 26, 2020 (154)
125 HGDP ss3847806390 Apr 26, 2020 (154)
126 SGDP_PRJ ss3862935931 Apr 26, 2020 (154)
127 KRGDB ss3909567396 Apr 26, 2020 (154)
128 KOGIC ss3957607121 Apr 26, 2020 (154)
129 FSA-LAB ss3984314687 Apr 26, 2021 (155)
130 EVA ss3985169099 Apr 26, 2021 (155)
131 EVA ss3986031332 Apr 26, 2021 (155)
132 EVA ss4017230021 Apr 26, 2021 (155)
133 TOPMED ss4677948690 Apr 26, 2021 (155)
134 TOMMO_GENOMICS ss5174043931 Apr 26, 2021 (155)
135 1000G_HIGH_COVERAGE ss5265770135 Oct 13, 2022 (156)
136 EVA ss5315084993 Oct 13, 2022 (156)
137 EVA ss5360828816 Oct 13, 2022 (156)
138 HUGCELL_USP ss5463745920 Oct 13, 2022 (156)
139 EVA ss5508206436 Oct 13, 2022 (156)
140 1000G_HIGH_COVERAGE ss5550377703 Oct 13, 2022 (156)
141 SANFORD_IMAGENETICS ss5624601216 Oct 13, 2022 (156)
142 SANFORD_IMAGENETICS ss5638843135 Oct 13, 2022 (156)
143 TOMMO_GENOMICS ss5711091103 Oct 13, 2022 (156)
144 EVA ss5799661622 Oct 13, 2022 (156)
145 YY_MCH ss5806750262 Oct 13, 2022 (156)
146 EVA ss5835614933 Oct 13, 2022 (156)
147 EVA ss5848063418 Oct 13, 2022 (156)
148 EVA ss5855010559 Oct 13, 2022 (156)
149 EVA ss5896236051 Oct 13, 2022 (156)
150 EVA ss5967305631 Oct 13, 2022 (156)
151 1000Genomes NC_000005.9 - 127522543 Oct 12, 2018 (152)
152 1000Genomes_30x NC_000005.10 - 128186851 Oct 13, 2022 (156)
153 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 127522543 Oct 12, 2018 (152)
154 Genetic variation in the Estonian population NC_000005.9 - 127522543 Oct 12, 2018 (152)
155 The Danish reference pan genome NC_000005.9 - 127522543 Apr 26, 2020 (154)
156 gnomAD - Genomes NC_000005.10 - 128186851 Apr 26, 2021 (155)
157 Genome of the Netherlands Release 5 NC_000005.9 - 127522543 Apr 26, 2020 (154)
158 HGDP-CEPH-db Supplement 1 NC_000005.8 - 127550442 Apr 26, 2020 (154)
159 HapMap NC_000005.10 - 128186851 Apr 26, 2020 (154)
160 KOREAN population from KRGDB NC_000005.9 - 127522543 Apr 26, 2020 (154)
161 Korean Genome Project NC_000005.10 - 128186851 Apr 26, 2020 (154)
162 Medical Genome Project healthy controls from Spanish population NC_000005.9 - 127522543 Apr 26, 2020 (154)
163 Northern Sweden NC_000005.9 - 127522543 Jul 13, 2019 (153)
164 The PAGE Study NC_000005.10 - 128186851 Jul 13, 2019 (153)
165 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000005.9 - 127522543 Apr 26, 2021 (155)
166 Qatari NC_000005.9 - 127522543 Apr 26, 2020 (154)
167 SGDP_PRJ NC_000005.9 - 127522543 Apr 26, 2020 (154)
168 Siberian NC_000005.9 - 127522543 Apr 26, 2020 (154)
169 8.3KJPN NC_000005.9 - 127522543 Apr 26, 2021 (155)
170 14KJPN NC_000005.10 - 128186851 Oct 13, 2022 (156)
171 TopMed NC_000005.10 - 128186851 Apr 26, 2021 (155)
172 UK 10K study - Twins NC_000005.9 - 127522543 Oct 12, 2018 (152)
173 A Vietnamese Genetic Variation Database NC_000005.9 - 127522543 Jul 13, 2019 (153)
174 ALFA NC_000005.10 - 128186851 Apr 26, 2021 (155)
175 ClinVar RCV001720643.1 Oct 13, 2022 (156)
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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)
rs3194198 Jul 03, 2002 (106)
rs3749750 Oct 08, 2002 (108)
rs17697379 Oct 08, 2004 (123)
rs56757457 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
5048297540 NC_000005.10:128186850:C:A NC_000005.10:128186850:C:A (self)
484282, ss109408606, ss167067885, ss200847119, ss211711571, ss253800165, ss278475179, ss479182566, ss825328109, ss1591629114, ss1712798808, ss3639292447, ss3639670384, ss3643523147, ss3847806390 NC_000005.8:127550441:C:T NC_000005.10:128186850:C:T (self)
28808627, 16022552, 11408878, 7509278, 7123078, 16744790, 212330, 6085737, 395026, 7402469, 14952911, 3958982, 32013238, 16022552, 3555652, ss221955718, ss233143142, ss240265304, ss479184733, ss479513058, ss484392310, ss491370362, ss536574592, ss558702697, ss652600010, ss778346754, ss780680296, ss782642514, ss783353570, ss783611917, ss831892732, ss832620921, ss833801416, ss982103528, ss1073028951, ss1317133008, ss1430498374, ss1581344339, ss1613966867, ss1656960900, ss1711096570, ss1752547345, ss1752547346, ss1804074332, ss1917793362, ss1925360539, ss1946154396, ss1946154397, ss1958820781, ss1958820782, ss1970205262, ss2023286755, ss2151442628, ss2626132467, ss2634337603, ss2634337604, ss2634337605, ss2707004909, ss2711048171, ss2830523745, ss2985333570, ss2997760274, ss3022527766, ss3346619996, ss3625883166, ss3629336845, ss3629336846, ss3632261834, ss3633389249, ss3634110391, ss3635020832, ss3635020833, ss3635792151, ss3636734369, ss3637544788, ss3638579075, ss3640728126, ss3640728127, ss3644887399, ss3644887400, ss3646324105, ss3653028278, ss3654105982, ss3665670630, ss3732800872, ss3744259476, ss3744539237, ss3745321031, ss3745321032, ss3764037057, ss3772815062, ss3772815063, ss3785245578, ss3790630408, ss3795507331, ss3825679098, ss3829496065, ss3862935931, ss3909567396, ss3984314687, ss3985169099, ss3986031332, ss4017230021, ss5174043931, ss5315084993, ss5360828816, ss5508206436, ss5624601216, ss5638843135, ss5799661622, ss5835614933, ss5848063418, ss5967305631 NC_000005.9:127522542:C:T NC_000005.10:128186850:C:T (self)
RCV001720643.1, 37903638, 203743186, 2964768, 13985122, 451113, 44928207, 515326247, 5048297540, ss2277971928, ss3025426162, ss3715662407, ss3726268739, ss3771229644, ss3807212016, ss3957607121, ss4677948690, ss5265770135, ss5463745920, ss5550377703, ss5711091103, ss5806750262, ss5855010559, ss5896236051 NC_000005.10:128186850:C:T NC_000005.10:128186850:C:T (self)
ss12229, ss1530979, ss4420302, ss4935776, ss6679515, ss16226928, ss24191265, ss66761979, ss66868770, ss66943732, ss70358378, ss70464203, ss70985299, ss75787351, ss83349409, ss104238374, ss121262177, ss152564649, ss156013561, ss159108150, ss159861668, ss169251701, ss169645571 NT_034772.6:35836414:C:T NC_000005.10:128186850:C:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

3 citations for rs10089
PMID Title Author Year Journal
18520591 Sequence variants in host cell factor C1 are associated with Ménière's disease. Vrabec JT et al. 2008 Otology & neurotology
21995669 A genome-wide survey for SNPs altering microRNA seed sites identifies functional candidates in GWAS. Richardson K et al. 2011 BMC genomics
23213652 Abstracts of the American College of Neuropsychopharmacology (ACNP) 51st Annual Meeting. December 2-6, 2012. Hollywood, Florida, USA. 2012 Neuropsychopharmacology
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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