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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.

rs12219125

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr10:20304158 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.144397 (46828/324300, ALFA)
T=0.144373 (38214/264690, TOPMED)
T=0.149644 (20902/139678, GnomAD) (+ 22 more)
T=0.12790 (10065/78694, PAGE_STUDY)
T=0.04678 (1322/28258, 14KJPN)
T=0.04726 (792/16760, 8.3KJPN)
T=0.1212 (776/6404, 1000G_30x)
T=0.1182 (592/5008, 1000G)
T=0.1417 (635/4480, Estonian)
T=0.1549 (597/3854, ALSPAC)
T=0.1677 (622/3708, TWINSUK)
T=0.0567 (166/2930, KOREAN)
T=0.1027 (214/2084, HGDP_Stanford)
T=0.1206 (228/1890, HapMap)
T=0.0671 (123/1832, Korea1K)
T=0.173 (173/998, GoNL)
T=0.101 (80/790, PRJEB37584)
T=0.180 (108/600, NorthernSweden)
T=0.037 (8/216, Qatari)
T=0.084 (18/214, Vietnamese)
G=0.443 (47/106, SGDP_PRJ)
T=0.31 (22/70, Ancient Sardinia)
T=0.07 (3/40, GENOME_DK)
G=0.50 (7/14, Siberian)
T=0.50 (7/14, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
5 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 324516 G=0.855616 T=0.144384
European Sub 283820 G=0.851173 T=0.148827
African Sub 8470 G=0.8560 T=0.1440
African Others Sub 318 G=0.836 T=0.164
African American Sub 8152 G=0.8567 T=0.1433
Asian Sub 6880 G=0.9124 T=0.0876
East Asian Sub 4942 G=0.9114 T=0.0886
Other Asian Sub 1938 G=0.9149 T=0.0851
Latin American 1 Sub 1074 G=0.8901 T=0.1099
Latin American 2 Sub 3160 G=0.8623 T=0.1377
South Asian Sub 5212 G=0.9505 T=0.0495
Other Sub 15900 G=0.87541 T=0.12459


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 324300 G=0.855603 T=0.144397
Allele Frequency Aggregator European Sub 283640 G=0.851167 T=0.148833
Allele Frequency Aggregator Other Sub 15878 G=0.87530 T=0.12470
Allele Frequency Aggregator African Sub 8456 G=0.8558 T=0.1442
Allele Frequency Aggregator Asian Sub 6880 G=0.9124 T=0.0876
Allele Frequency Aggregator South Asian Sub 5212 G=0.9505 T=0.0495
Allele Frequency Aggregator Latin American 2 Sub 3160 G=0.8623 T=0.1377
Allele Frequency Aggregator Latin American 1 Sub 1074 G=0.8901 T=0.1099
TopMed Global Study-wide 264690 G=0.855627 T=0.144373
gnomAD - Genomes Global Study-wide 139678 G=0.850356 T=0.149644
gnomAD - Genomes European Sub 75688 G=0.84036 T=0.15964
gnomAD - Genomes African Sub 41808 G=0.86012 T=0.13988
gnomAD - Genomes American Sub 13588 G=0.85252 T=0.14748
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.8892 T=0.1108
gnomAD - Genomes East Asian Sub 3126 G=0.9012 T=0.0988
gnomAD - Genomes Other Sub 2148 G=0.8650 T=0.1350
The PAGE Study Global Study-wide 78694 G=0.87210 T=0.12790
The PAGE Study AfricanAmerican Sub 32516 G=0.85669 T=0.14331
The PAGE Study Mexican Sub 10808 G=0.87019 T=0.12981
The PAGE Study Asian Sub 8314 G=0.9448 T=0.0552
The PAGE Study PuertoRican Sub 7918 G=0.8639 T=0.1361
The PAGE Study NativeHawaiian Sub 4532 G=0.9153 T=0.0847
The PAGE Study Cuban Sub 4230 G=0.8520 T=0.1480
The PAGE Study Dominican Sub 3828 G=0.8689 T=0.1311
The PAGE Study CentralAmerican Sub 2450 G=0.8294 T=0.1706
The PAGE Study SouthAmerican Sub 1982 G=0.8325 T=0.1675
The PAGE Study NativeAmerican Sub 1260 G=0.8722 T=0.1278
The PAGE Study SouthAsian Sub 856 G=0.951 T=0.049
14KJPN JAPANESE Study-wide 28258 G=0.95322 T=0.04678
8.3KJPN JAPANESE Study-wide 16760 G=0.95274 T=0.04726
1000Genomes_30x Global Study-wide 6404 G=0.8788 T=0.1212
1000Genomes_30x African Sub 1786 G=0.8533 T=0.1467
1000Genomes_30x Europe Sub 1266 G=0.8547 T=0.1453
1000Genomes_30x South Asian Sub 1202 G=0.9434 T=0.0566
1000Genomes_30x East Asian Sub 1170 G=0.9060 T=0.0940
1000Genomes_30x American Sub 980 G=0.845 T=0.155
1000Genomes Global Study-wide 5008 G=0.8818 T=0.1182
1000Genomes African Sub 1322 G=0.8533 T=0.1467
1000Genomes East Asian Sub 1008 G=0.9067 T=0.0933
1000Genomes Europe Sub 1006 G=0.8598 T=0.1402
1000Genomes South Asian Sub 978 G=0.946 T=0.054
1000Genomes American Sub 694 G=0.841 T=0.159
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.8583 T=0.1417
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.8451 T=0.1549
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.8323 T=0.1677
KOREAN population from KRGDB KOREAN Study-wide 2930 G=0.9433 T=0.0567
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.8973 T=0.1027
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.889 T=0.111
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.944 T=0.056
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.914 T=0.086
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.881 T=0.119
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.893 T=0.107
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.792 T=0.208
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=1.00 T=0.00
HapMap Global Study-wide 1890 G=0.8794 T=0.1206
HapMap American Sub 768 G=0.882 T=0.118
HapMap African Sub 692 G=0.848 T=0.152
HapMap Asian Sub 254 G=0.941 T=0.059
HapMap Europe Sub 176 G=0.903 T=0.097
Korean Genome Project KOREAN Study-wide 1832 G=0.9329 T=0.0671
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.827 T=0.173
CNV burdens in cranial meningiomas Global Study-wide 790 G=0.899 T=0.101
CNV burdens in cranial meningiomas CRM Sub 790 G=0.899 T=0.101
Northern Sweden ACPOP Study-wide 600 G=0.820 T=0.180
Qatari Global Study-wide 216 G=0.963 T=0.037
A Vietnamese Genetic Variation Database Global Study-wide 214 G=0.916 T=0.084
SGDP_PRJ Global Study-wide 106 G=0.443 T=0.557
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 70 G=0.69 T=0.31
The Danish reference pan genome Danish Study-wide 40 G=0.93 T=0.07
Siberian Global Study-wide 14 G=0.50 T=0.50
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 10 NC_000010.11:g.20304158G>T
GRCh37.p13 chr 10 NC_000010.10:g.20593087G>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 G= T
GRCh38.p14 chr 10 NC_000010.11:g.20304158= NC_000010.11:g.20304158G>T
GRCh37.p13 chr 10 NC_000010.10:g.20593087= NC_000010.10:g.20593087G>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#.

132 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss18427587 Feb 28, 2004 (120)
2 ILLUMINA ss66991541 Nov 30, 2006 (127)
3 ILLUMINA ss67166604 Nov 30, 2006 (127)
4 ILLUMINA ss68124155 Dec 12, 2006 (127)
5 ILLUMINA ss70560376 May 25, 2008 (130)
6 ILLUMINA ss71098363 May 17, 2007 (127)
7 ILLUMINA ss74930753 Dec 06, 2007 (129)
8 HGSV ss80289567 Dec 15, 2007 (130)
9 KRIBB_YJKIM ss85198671 Dec 15, 2007 (130)
10 BCMHGSC_JDW ss88125013 Mar 23, 2008 (129)
11 BGI ss102860387 Dec 01, 2009 (131)
12 ILLUMINA-UK ss119074047 Feb 15, 2009 (130)
13 ILLUMINA ss153156758 Dec 01, 2009 (131)
14 GMI ss154696981 Dec 01, 2009 (131)
15 ILLUMINA ss159208813 Dec 01, 2009 (131)
16 ILLUMINA ss160042553 Dec 01, 2009 (131)
17 ILLUMINA ss171939959 Jul 04, 2010 (132)
18 1000GENOMES ss224610744 Jul 14, 2010 (132)
19 1000GENOMES ss235089144 Jul 15, 2010 (132)
20 1000GENOMES ss241814151 Jul 15, 2010 (132)
21 BL ss254127279 May 09, 2011 (134)
22 GMI ss280513307 May 04, 2012 (137)
23 PJP ss290991291 May 09, 2011 (134)
24 ILLUMINA ss479696346 May 04, 2012 (137)
25 ILLUMINA ss479702003 May 04, 2012 (137)
26 ILLUMINA ss480235773 Sep 08, 2015 (146)
27 ILLUMINA ss484646689 May 04, 2012 (137)
28 EXOME_CHIP ss491433169 May 04, 2012 (137)
29 ILLUMINA ss536764488 Sep 08, 2015 (146)
30 TISHKOFF ss561823343 Apr 25, 2013 (138)
31 SSMP ss656392624 Apr 25, 2013 (138)
32 ILLUMINA ss778776901 Sep 08, 2015 (146)
33 ILLUMINA ss780681354 Sep 08, 2015 (146)
34 ILLUMINA ss782770179 Sep 08, 2015 (146)
35 ILLUMINA ss783354667 Sep 08, 2015 (146)
36 ILLUMINA ss783736378 Sep 08, 2015 (146)
37 ILLUMINA ss832022591 Sep 08, 2015 (146)
38 ILLUMINA ss832721231 Jul 13, 2019 (153)
39 ILLUMINA ss834236802 Sep 08, 2015 (146)
40 EVA-GONL ss987275213 Aug 21, 2014 (142)
41 JMKIDD_LAB ss1076825937 Aug 21, 2014 (142)
42 1000GENOMES ss1336580423 Aug 21, 2014 (142)
43 EVA_GENOME_DK ss1574972058 Apr 01, 2015 (144)
44 EVA_DECODE ss1596931698 Apr 01, 2015 (144)
45 EVA_UK10K_ALSPAC ss1624149476 Apr 01, 2015 (144)
46 EVA_UK10K_TWINSUK ss1667143509 Apr 01, 2015 (144)
47 EVA_SVP ss1713164462 Apr 01, 2015 (144)
48 ILLUMINA ss1751961270 Sep 08, 2015 (146)
49 ILLUMINA ss1751961271 Sep 08, 2015 (146)
50 HAMMER_LAB ss1806293578 Sep 08, 2015 (146)
51 ILLUMINA ss1917845235 Feb 12, 2016 (147)
52 WEILL_CORNELL_DGM ss1930604790 Feb 12, 2016 (147)
53 ILLUMINA ss1946277847 Feb 12, 2016 (147)
54 ILLUMINA ss1959246073 Feb 12, 2016 (147)
55 GENOMED ss1967079578 Jul 19, 2016 (147)
56 JJLAB ss2026029897 Sep 14, 2016 (149)
57 USC_VALOUEV ss2154274385 Dec 20, 2016 (150)
58 HUMAN_LONGEVITY ss2173275546 Dec 20, 2016 (150)
59 ILLUMINA ss2632686945 Nov 08, 2017 (151)
60 ILLUMINA ss2632686946 Nov 08, 2017 (151)
61 ILLUMINA ss2632686947 Nov 08, 2017 (151)
62 ILLUMINA ss2635012566 Nov 08, 2017 (151)
63 GRF ss2698504288 Nov 08, 2017 (151)
64 GNOMAD ss2886350538 Nov 08, 2017 (151)
65 AFFY ss2984907586 Nov 08, 2017 (151)
66 AFFY ss2985552898 Nov 08, 2017 (151)
67 SWEGEN ss3006064445 Nov 08, 2017 (151)
68 ILLUMINA ss3021221829 Nov 08, 2017 (151)
69 BIOINF_KMB_FNS_UNIBA ss3026802072 Nov 08, 2017 (151)
70 CSHL ss3349001724 Nov 08, 2017 (151)
71 ILLUMINA ss3626405504 Oct 12, 2018 (152)
72 ILLUMINA ss3626405505 Oct 12, 2018 (152)
73 ILLUMINA ss3630714033 Oct 12, 2018 (152)
74 ILLUMINA ss3632942325 Oct 12, 2018 (152)
75 ILLUMINA ss3633639136 Oct 12, 2018 (152)
76 ILLUMINA ss3634394639 Oct 12, 2018 (152)
77 ILLUMINA ss3634394640 Oct 12, 2018 (152)
78 ILLUMINA ss3635331855 Oct 12, 2018 (152)
79 ILLUMINA ss3636075335 Oct 12, 2018 (152)
80 ILLUMINA ss3637082459 Oct 12, 2018 (152)
81 ILLUMINA ss3637839047 Oct 12, 2018 (152)
82 ILLUMINA ss3638935434 Oct 12, 2018 (152)
83 ILLUMINA ss3639779234 Oct 12, 2018 (152)
84 ILLUMINA ss3640101982 Oct 12, 2018 (152)
85 ILLUMINA ss3640101983 Oct 12, 2018 (152)
86 ILLUMINA ss3642843274 Oct 12, 2018 (152)
87 ILLUMINA ss3643832104 Oct 12, 2018 (152)
88 ILLUMINA ss3644530533 Oct 12, 2018 (152)
89 ILLUMINA ss3651571995 Oct 12, 2018 (152)
90 ILLUMINA ss3653677472 Oct 12, 2018 (152)
91 EGCUT_WGS ss3673591367 Jul 13, 2019 (153)
92 EVA_DECODE ss3689438431 Jul 13, 2019 (153)
93 ILLUMINA ss3725142490 Jul 13, 2019 (153)
94 ACPOP ss3737132416 Jul 13, 2019 (153)
95 ILLUMINA ss3744365026 Jul 13, 2019 (153)
96 ILLUMINA ss3744695547 Jul 13, 2019 (153)
97 ILLUMINA ss3744695548 Jul 13, 2019 (153)
98 EVA ss3747843464 Jul 13, 2019 (153)
99 PAGE_CC ss3771547345 Jul 13, 2019 (153)
100 ILLUMINA ss3772196168 Jul 13, 2019 (153)
101 ILLUMINA ss3772196169 Jul 13, 2019 (153)
102 KHV_HUMAN_GENOMES ss3813205852 Jul 13, 2019 (153)
103 EVA ss3832011659 Apr 26, 2020 (154)
104 EVA ss3839538185 Apr 26, 2020 (154)
105 EVA ss3845005174 Apr 26, 2020 (154)
106 HGDP ss3847379097 Apr 26, 2020 (154)
107 SGDP_PRJ ss3873705819 Apr 26, 2020 (154)
108 KRGDB ss3921658252 Apr 26, 2020 (154)
109 KOGIC ss3967352299 Apr 26, 2020 (154)
110 EVA ss3984631184 Apr 26, 2021 (155)
111 EVA ss3985463511 Apr 26, 2021 (155)
112 EVA ss4017475306 Apr 26, 2021 (155)
113 TOPMED ss4844971825 Apr 26, 2021 (155)
114 TOMMO_GENOMICS ss5196608898 Apr 26, 2021 (155)
115 EVA ss5237473258 Apr 26, 2021 (155)
116 1000G_HIGH_COVERAGE ss5283194419 Oct 13, 2022 (156)
117 EVA ss5315458993 Oct 13, 2022 (156)
118 EVA ss5392079850 Oct 13, 2022 (156)
119 HUGCELL_USP ss5478944188 Oct 13, 2022 (156)
120 1000G_HIGH_COVERAGE ss5576707013 Oct 13, 2022 (156)
121 SANFORD_IMAGENETICS ss5624242615 Oct 13, 2022 (156)
122 SANFORD_IMAGENETICS ss5648832670 Oct 13, 2022 (156)
123 TOMMO_GENOMICS ss5741557113 Oct 13, 2022 (156)
124 EVA ss5799806755 Oct 13, 2022 (156)
125 YY_MCH ss5811267902 Oct 13, 2022 (156)
126 EVA ss5824085929 Oct 13, 2022 (156)
127 EVA ss5847369575 Oct 13, 2022 (156)
128 EVA ss5849475150 Oct 13, 2022 (156)
129 EVA ss5878047599 Oct 13, 2022 (156)
130 EVA ss5940122720 Oct 13, 2022 (156)
131 EVA ss5979319701 Oct 13, 2022 (156)
132 EVA ss5980600995 Oct 13, 2022 (156)
133 1000Genomes NC_000010.10 - 20593087 Oct 12, 2018 (152)
134 1000Genomes_30x NC_000010.11 - 20304158 Oct 13, 2022 (156)
135 The Avon Longitudinal Study of Parents and Children NC_000010.10 - 20593087 Oct 12, 2018 (152)
136 Genetic variation in the Estonian population NC_000010.10 - 20593087 Oct 12, 2018 (152)
137 The Danish reference pan genome NC_000010.10 - 20593087 Apr 26, 2020 (154)
138 gnomAD - Genomes NC_000010.11 - 20304158 Apr 26, 2021 (155)
139 Genome of the Netherlands Release 5 NC_000010.10 - 20593087 Apr 26, 2020 (154)
140 HGDP-CEPH-db Supplement 1 NC_000010.9 - 20633093 Apr 26, 2020 (154)
141 HapMap NC_000010.11 - 20304158 Apr 26, 2020 (154)
142 KOREAN population from KRGDB NC_000010.10 - 20593087 Apr 26, 2020 (154)
143 Korean Genome Project NC_000010.11 - 20304158 Apr 26, 2020 (154)
144 Northern Sweden NC_000010.10 - 20593087 Jul 13, 2019 (153)
145 The PAGE Study NC_000010.11 - 20304158 Jul 13, 2019 (153)
146 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000010.10 - 20593087 Apr 26, 2021 (155)
147 CNV burdens in cranial meningiomas NC_000010.10 - 20593087 Apr 26, 2021 (155)
148 Qatari NC_000010.10 - 20593087 Apr 26, 2020 (154)
149 SGDP_PRJ NC_000010.10 - 20593087 Apr 26, 2020 (154)
150 Siberian NC_000010.10 - 20593087 Apr 26, 2020 (154)
151 8.3KJPN NC_000010.10 - 20593087 Apr 26, 2021 (155)
152 14KJPN NC_000010.11 - 20304158 Oct 13, 2022 (156)
153 TopMed NC_000010.11 - 20304158 Apr 26, 2021 (155)
154 UK 10K study - Twins NC_000010.10 - 20593087 Oct 12, 2018 (152)
155 A Vietnamese Genetic Variation Database NC_000010.10 - 20593087 Jul 13, 2019 (153)
156 ALFA NC_000010.11 - 20304158 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)
rs60149188 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss80289567, ss3638935434, ss3639779234, ss3643832104 NC_000010.8:20633092:G:T NC_000010.11:20304157:G:T (self)
56989, ss88125013, ss119074047, ss254127279, ss280513307, ss290991291, ss479696346, ss1596931698, ss1713164462, ss2635012566, ss3642843274, ss3847379097 NC_000010.9:20633092:G:T NC_000010.11:20304157:G:T (self)
48937620, 27193621, 19329615, 2066584, 12126695, 28835646, 10417281, 689438, 180641, 12646720, 25722799, 6790739, 54578205, 27193621, 6039149, ss224610744, ss235089144, ss241814151, ss479702003, ss480235773, ss484646689, ss491433169, ss536764488, ss561823343, ss656392624, ss778776901, ss780681354, ss782770179, ss783354667, ss783736378, ss832022591, ss832721231, ss834236802, ss987275213, ss1076825937, ss1336580423, ss1574972058, ss1624149476, ss1667143509, ss1751961270, ss1751961271, ss1806293578, ss1917845235, ss1930604790, ss1946277847, ss1959246073, ss1967079578, ss2026029897, ss2154274385, ss2632686945, ss2632686946, ss2632686947, ss2698504288, ss2886350538, ss2984907586, ss2985552898, ss3006064445, ss3021221829, ss3349001724, ss3626405504, ss3626405505, ss3630714033, ss3632942325, ss3633639136, ss3634394639, ss3634394640, ss3635331855, ss3636075335, ss3637082459, ss3637839047, ss3640101982, ss3640101983, ss3644530533, ss3651571995, ss3653677472, ss3673591367, ss3737132416, ss3744365026, ss3744695547, ss3744695548, ss3747843464, ss3772196168, ss3772196169, ss3832011659, ss3839538185, ss3873705819, ss3921658252, ss3984631184, ss3985463511, ss4017475306, ss5196608898, ss5237473258, ss5315458993, ss5392079850, ss5624242615, ss5648832670, ss5799806755, ss5824085929, ss5847369575, ss5940122720, ss5979319701, ss5980600995 NC_000010.10:20593086:G:T NC_000010.11:20304157:G:T (self)
64232948, 345593996, 357025, 23730300, 768814, 75394217, 60517480, 1234865713, ss2173275546, ss3026802072, ss3689438431, ss3725142490, ss3771547345, ss3813205852, ss3845005174, ss3967352299, ss4844971825, ss5283194419, ss5478944188, ss5576707013, ss5741557113, ss5811267902, ss5849475150, ss5878047599 NC_000010.11:20304157:G:T NC_000010.11:20304157:G:T (self)
ss18427587 NT_008705.15:2568411:G:T NC_000010.11:20304157:G:T (self)
ss66991541, ss67166604, ss68124155, ss70560376, ss71098363, ss74930753, ss85198671, ss102860387, ss153156758, ss154696981, ss159208813, ss160042553, ss171939959 NT_008705.16:20533086:G:T NC_000010.11:20304157:G:T (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

5 citations for rs12219125
PMID Title Author Year Journal
23818875 DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts. Zhernakova DV et al. 2013 PLoS genetics
25487307 The association of previously reported polymorphisms for microvascular complications in a meta-analysis of diabetic retinopathy. Hosseini SM et al. 2015 Human genetics
26648684 Update on genetics and diabetic retinopathy. Hampton BM et al. 2015 Clinical ophthalmology (Auckland, N.Z.)
31130920 Genetic Associations With Diabetic Retinopathy and Coronary Artery Disease in Emirati Patients With Type-2 Diabetes Mellitus. Azzam SK et al. 2019 Frontiers in endocrinology
31231424 Genetic and Epigenetic Studies in Diabetic Kidney Disease. Gu HF et al. 2019 Frontiers in genetics
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