Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs10811661

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr9:22134095 (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
C=0.145903 (38619/264690, TOPMED)
C=0.169932 (31916/187816, ALFA)
C=0.141222 (19796/140176, GnomAD) (+ 22 more)
C=0.15170 (11938/78694, PAGE_STUDY)
C=0.42243 (11937/28258, 14KJPN)
C=0.42691 (7155/16760, 8.3KJPN)
C=0.1710 (1095/6404, 1000G_30x)
C=0.1763 (883/5008, 1000G)
C=0.1353 (606/4480, Estonian)
C=0.1879 (724/3854, ALSPAC)
C=0.1775 (658/3708, TWINSUK)
C=0.4290 (1257/2930, KOREAN)
C=0.1849 (348/1882, HapMap)
C=0.4187 (767/1832, Korea1K)
C=0.1549 (176/1136, Daghestan)
C=0.185 (185/998, GoNL)
C=0.477 (377/790, PRJEB37584)
C=0.136 (85/626, Chileans)
C=0.255 (153/600, NorthernSweden)
T=0.428 (95/222, SGDP_PRJ)
C=0.139 (30/216, Qatari)
C=0.416 (89/214, Vietnamese)
C=0.26 (24/92, Ancient Sardinia)
C=0.15 (6/40, GENOME_DK)
T=0.46 (13/28, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
223 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 192946 T=0.830424 C=0.169576
European Sub 159666 T=0.828241 C=0.171759
African Sub 10256 T=0.93467 C=0.06533
African Others Sub 384 T=0.951 C=0.049
African American Sub 9872 T=0.9341 C=0.0659
Asian Sub 3712 T=0.5741 C=0.4259
East Asian Sub 3016 T=0.5653 C=0.4347
Other Asian Sub 696 T=0.612 C=0.388
Latin American 1 Sub 1008 T=0.8532 C=0.1468
Latin American 2 Sub 7376 T=0.8712 C=0.1288
South Asian Sub 358 T=0.858 C=0.142
Other Sub 10570 T=0.82072 C=0.17928


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=0.854097 C=0.145903
Allele Frequency Aggregator Total Global 187816 T=0.830068 C=0.169932
Allele Frequency Aggregator European Sub 156496 T=0.828552 C=0.171448
Allele Frequency Aggregator Other Sub 9752 T=0.8199 C=0.1801
Allele Frequency Aggregator African Sub 9114 T=0.9343 C=0.0657
Allele Frequency Aggregator Latin American 2 Sub 7376 T=0.8712 C=0.1288
Allele Frequency Aggregator Asian Sub 3712 T=0.5741 C=0.4259
Allele Frequency Aggregator Latin American 1 Sub 1008 T=0.8532 C=0.1468
Allele Frequency Aggregator South Asian Sub 358 T=0.858 C=0.142
gnomAD - Genomes Global Study-wide 140176 T=0.858778 C=0.141222
gnomAD - Genomes European Sub 75896 T=0.83321 C=0.16679
gnomAD - Genomes African Sub 42034 T=0.93248 C=0.06752
gnomAD - Genomes American Sub 13650 T=0.83993 C=0.16007
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.8384 C=0.1616
gnomAD - Genomes East Asian Sub 3122 T=0.5990 C=0.4010
gnomAD - Genomes Other Sub 2150 T=0.8488 C=0.1512
The PAGE Study Global Study-wide 78694 T=0.84830 C=0.15170
The PAGE Study AfricanAmerican Sub 32514 T=0.93006 C=0.06994
The PAGE Study Mexican Sub 10810 T=0.88113 C=0.11887
The PAGE Study Asian Sub 8312 T=0.5740 C=0.4260
The PAGE Study PuertoRican Sub 7918 T=0.8534 C=0.1466
The PAGE Study NativeHawaiian Sub 4534 T=0.6409 C=0.3591
The PAGE Study Cuban Sub 4230 T=0.8343 C=0.1657
The PAGE Study Dominican Sub 3828 T=0.8764 C=0.1236
The PAGE Study CentralAmerican Sub 2450 T=0.8751 C=0.1249
The PAGE Study SouthAmerican Sub 1982 T=0.8653 C=0.1347
The PAGE Study NativeAmerican Sub 1260 T=0.8532 C=0.1468
The PAGE Study SouthAsian Sub 856 T=0.863 C=0.137
14KJPN JAPANESE Study-wide 28258 T=0.57757 C=0.42243
8.3KJPN JAPANESE Study-wide 16760 T=0.57309 C=0.42691
1000Genomes_30x Global Study-wide 6404 T=0.8290 C=0.1710
1000Genomes_30x African Sub 1786 T=0.9563 C=0.0437
1000Genomes_30x Europe Sub 1266 T=0.8278 C=0.1722
1000Genomes_30x South Asian Sub 1202 T=0.8669 C=0.1331
1000Genomes_30x East Asian Sub 1170 T=0.5590 C=0.4410
1000Genomes_30x American Sub 980 T=0.874 C=0.126
1000Genomes Global Study-wide 5008 T=0.8237 C=0.1763
1000Genomes African Sub 1322 T=0.9546 C=0.0454
1000Genomes East Asian Sub 1008 T=0.5645 C=0.4355
1000Genomes Europe Sub 1006 T=0.8320 C=0.1680
1000Genomes South Asian Sub 978 T=0.868 C=0.132
1000Genomes American Sub 694 T=0.876 C=0.124
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.8647 C=0.1353
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.8121 C=0.1879
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.8225 C=0.1775
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.5710 A=0.0000, C=0.4290
HapMap Global Study-wide 1882 T=0.8151 C=0.1849
HapMap American Sub 770 T=0.796 C=0.204
HapMap African Sub 684 T=0.937 C=0.063
HapMap Asian Sub 252 T=0.544 C=0.456
HapMap Europe Sub 176 T=0.812 C=0.188
Korean Genome Project KOREAN Study-wide 1832 T=0.5813 C=0.4187
Genome-wide autozygosity in Daghestan Global Study-wide 1136 T=0.8451 C=0.1549
Genome-wide autozygosity in Daghestan Daghestan Sub 628 T=0.877 C=0.123
Genome-wide autozygosity in Daghestan Near_East Sub 144 T=0.854 C=0.146
Genome-wide autozygosity in Daghestan Central Asia Sub 122 T=0.746 C=0.254
Genome-wide autozygosity in Daghestan Europe Sub 108 T=0.833 C=0.167
Genome-wide autozygosity in Daghestan South Asian Sub 98 T=0.82 C=0.18
Genome-wide autozygosity in Daghestan Caucasus Sub 36 T=0.69 C=0.31
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.815 C=0.185
CNV burdens in cranial meningiomas Global Study-wide 790 T=0.523 C=0.477
CNV burdens in cranial meningiomas CRM Sub 790 T=0.523 C=0.477
Chileans Chilean Study-wide 626 T=0.864 C=0.136
Northern Sweden ACPOP Study-wide 600 T=0.745 C=0.255
SGDP_PRJ Global Study-wide 222 T=0.428 C=0.572
Qatari Global Study-wide 216 T=0.861 C=0.139
A Vietnamese Genetic Variation Database Global Study-wide 214 T=0.584 C=0.416
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 92 T=0.74 C=0.26
The Danish reference pan genome Danish Study-wide 40 T=0.85 C=0.15
Siberian Global Study-wide 28 T=0.46 C=0.54
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 9 NC_000009.12:g.22134095T>A
GRCh38.p14 chr 9 NC_000009.12:g.22134095T>C
GRCh37.p13 chr 9 NC_000009.11:g.22134094T>A
GRCh37.p13 chr 9 NC_000009.11:g.22134094T>C
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 9 NC_000009.12:g.22134095= NC_000009.12:g.22134095T>A NC_000009.12:g.22134095T>C
GRCh37.p13 chr 9 NC_000009.11:g.22134094= NC_000009.11:g.22134094T>A NC_000009.11:g.22134094T>C
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#.

98 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 SC_SNP ss15954995 Feb 27, 2004 (120)
2 SC_SNP ss18606193 Feb 27, 2004 (120)
3 SC_SNP ss19057714 Feb 27, 2004 (120)
4 AFFY ss66064046 Nov 29, 2006 (127)
5 AFFY ss75986202 Dec 08, 2007 (130)
6 KRIBB_YJKIM ss82771277 Dec 15, 2007 (130)
7 BGI ss104605567 Dec 01, 2009 (131)
8 RSG_JCVI ss107934366 Feb 04, 2009 (130)
9 WTCCC ss120256078 Dec 01, 2009 (131)
10 ILLUMINA ss159924101 Dec 01, 2009 (131)
11 AFFY ss170043166 Jun 24, 2010 (142)
12 PAGE_STUDY ss181341851 Jul 04, 2010 (132)
13 PAGE_STUDY ss181834428 Jul 04, 2010 (132)
14 PAGE_STUDY ss181835895 Jul 04, 2010 (132)
15 1000GENOMES ss224175948 Jul 14, 2010 (132)
16 WTCCC ss230393063 Jul 04, 2010 (132)
17 1000GENOMES ss234764887 Jul 15, 2010 (132)
18 1000GENOMES ss241550389 Jul 15, 2010 (132)
19 ILLUMINA ss244270289 Jul 04, 2010 (132)
20 GMI ss280150195 May 04, 2012 (137)
21 GMI ss285987888 Apr 25, 2013 (138)
22 ILLUMINA ss410889041 Sep 17, 2011 (135)
23 BROAD_NHGRI_T2D ss411632917 Jul 19, 2016 (147)
24 ILLUMINA ss479762335 Sep 08, 2015 (146)
25 EXOME_CHIP ss491421335 May 04, 2012 (137)
26 TISHKOFF ss561303806 Apr 25, 2013 (138)
27 SSMP ss655735666 Apr 25, 2013 (138)
28 EVA-GONL ss986414542 Aug 21, 2014 (142)
29 JMKIDD_LAB ss1076193597 Aug 21, 2014 (142)
30 1000GENOMES ss1333300101 Aug 21, 2014 (142)
31 HAMMER_LAB ss1397551633 Sep 08, 2015 (146)
32 DDI ss1431782562 Apr 01, 2015 (144)
33 EVA_GENOME_DK ss1583029205 Apr 01, 2015 (144)
34 EVA_DECODE ss1596048741 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1622458202 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1665452235 Apr 01, 2015 (144)
37 EVA_SVP ss1713099093 Apr 01, 2015 (144)
38 WEILL_CORNELL_DGM ss1929697918 Feb 12, 2016 (147)
39 ILLUMINA ss1946255407 Feb 12, 2016 (147)
40 ILLUMINA ss1959173175 Feb 12, 2016 (147)
41 GENOMED ss1971178691 Jul 19, 2016 (147)
42 JJLAB ss2025560956 Sep 14, 2016 (149)
43 ILLUMINA ss2094835220 Dec 20, 2016 (150)
44 ILLUMINA ss2095220497 Dec 20, 2016 (150)
45 USC_VALOUEV ss2153787198 Dec 20, 2016 (150)
46 HUMAN_LONGEVITY ss2310213898 Dec 20, 2016 (150)
47 SYSTEMSBIOZJU ss2627255104 Nov 08, 2017 (151)
48 ILLUMINA ss2634850098 Nov 08, 2017 (151)
49 ILLUMINA ss2634850099 Nov 08, 2017 (151)
50 ILLUMINA ss2635194098 Nov 08, 2017 (151)
51 GRF ss2709591773 Nov 08, 2017 (151)
52 ILLUMINA ss2711159951 Nov 08, 2017 (151)
53 GNOMAD ss2876542304 Nov 08, 2017 (151)
54 AFFY ss2985458499 Nov 08, 2017 (151)
55 AFFY ss2986104589 Nov 08, 2017 (151)
56 SWEGEN ss3004538153 Nov 08, 2017 (151)
57 ILLUMINA ss3022917204 Nov 08, 2017 (151)
58 BIOINF_KMB_FNS_UNIBA ss3026570211 Nov 08, 2017 (151)
59 CSHL ss3348570207 Nov 08, 2017 (151)
60 ILLUMINA ss3625980850 Oct 12, 2018 (152)
61 ILLUMINA ss3636952435 Oct 12, 2018 (152)
62 ILLUMINA ss3644988719 Oct 12, 2018 (152)
63 ILLUMINA ss3653468368 Oct 12, 2018 (152)
64 ILLUMINA ss3654222526 Oct 12, 2018 (152)
65 EGCUT_WGS ss3672284650 Jul 13, 2019 (153)
66 EVA_DECODE ss3723661857 Jul 13, 2019 (153)
67 ILLUMINA ss3726601652 Jul 13, 2019 (153)
68 ACPOP ss3736393870 Jul 13, 2019 (153)
69 ILLUMINA ss3744317644 Jul 13, 2019 (153)
70 ILLUMINA ss3744587248 Jul 13, 2019 (153)
71 EVA ss3769037098 Jul 13, 2019 (153)
72 PAGE_CC ss3771492532 Jul 13, 2019 (153)
73 JVAR_NIG-HUMG ss3798740378 Jul 13, 2019 (153)
74 KHV_HUMAN_GENOMES ss3812194174 Jul 13, 2019 (153)
75 EVA ss3831586943 Apr 26, 2020 (154)
76 SGDP_PRJ ss3871729440 Apr 26, 2020 (154)
77 KRGDB ss3919387880 Apr 26, 2020 (154)
78 KOGIC ss3965479750 Apr 26, 2020 (154)
79 EVA ss3984617755 Apr 26, 2021 (155)
80 EVA ss3985412212 Apr 26, 2021 (155)
81 TOPMED ss4816112229 Apr 26, 2021 (155)
82 TOMMO_GENOMICS ss5192521333 Apr 26, 2021 (155)
83 EVA ss5237456872 Apr 26, 2021 (155)
84 1000G_HIGH_COVERAGE ss5280135098 Oct 16, 2022 (156)
85 EVA ss5386658220 Oct 16, 2022 (156)
86 HUGCELL_USP ss5476377723 Oct 16, 2022 (156)
87 1000G_HIGH_COVERAGE ss5572084656 Oct 16, 2022 (156)
88 SANFORD_IMAGENETICS ss5624716126 Oct 16, 2022 (156)
89 SANFORD_IMAGENETICS ss5647103152 Oct 16, 2022 (156)
90 TOMMO_GENOMICS ss5735693435 Oct 16, 2022 (156)
91 YY_MCH ss5810428235 Oct 16, 2022 (156)
92 EVA ss5828981299 Oct 16, 2022 (156)
93 EVA ss5847353897 Oct 16, 2022 (156)
94 EVA ss5848201854 Oct 16, 2022 (156)
95 EVA ss5856712264 Oct 16, 2022 (156)
96 EVA ss5915918080 Oct 16, 2022 (156)
97 EVA ss5976380988 Oct 16, 2022 (156)
98 EVA ss5979889129 Oct 16, 2022 (156)
99 1000Genomes NC_000009.11 - 22134094 Oct 12, 2018 (152)
100 1000Genomes_30x NC_000009.12 - 22134095 Oct 16, 2022 (156)
101 The Avon Longitudinal Study of Parents and Children NC_000009.11 - 22134094 Oct 12, 2018 (152)
102 Chileans NC_000009.11 - 22134094 Apr 26, 2020 (154)
103 Genome-wide autozygosity in Daghestan NC_000009.10 - 22124094 Apr 26, 2020 (154)
104 Genetic variation in the Estonian population NC_000009.11 - 22134094 Oct 12, 2018 (152)
105 The Danish reference pan genome NC_000009.11 - 22134094 Apr 26, 2020 (154)
106 gnomAD - Genomes NC_000009.12 - 22134095 Apr 26, 2021 (155)
107 Genome of the Netherlands Release 5 NC_000009.11 - 22134094 Apr 26, 2020 (154)
108 HapMap NC_000009.12 - 22134095 Apr 26, 2020 (154)
109 KOREAN population from KRGDB NC_000009.11 - 22134094 Apr 26, 2020 (154)
110 Korean Genome Project NC_000009.12 - 22134095 Apr 26, 2020 (154)
111 Northern Sweden NC_000009.11 - 22134094 Jul 13, 2019 (153)
112 The PAGE Study NC_000009.12 - 22134095 Jul 13, 2019 (153)
113 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000009.11 - 22134094 Apr 26, 2021 (155)
114 CNV burdens in cranial meningiomas NC_000009.11 - 22134094 Apr 26, 2021 (155)
115 Qatari NC_000009.11 - 22134094 Apr 26, 2020 (154)
116 SGDP_PRJ NC_000009.11 - 22134094 Apr 26, 2020 (154)
117 Siberian NC_000009.11 - 22134094 Apr 26, 2020 (154)
118 8.3KJPN NC_000009.11 - 22134094 Apr 26, 2021 (155)
119 14KJPN NC_000009.12 - 22134095 Oct 16, 2022 (156)
120 TopMed NC_000009.12 - 22134095 Apr 26, 2021 (155)
121 UK 10K study - Twins NC_000009.11 - 22134094 Oct 12, 2018 (152)
122 A Vietnamese Genetic Variation Database NC_000009.11 - 22134094 Jul 13, 2019 (153)
123 ALFA NC_000009.12 - 22134095 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)
rs56432185 May 24, 2008 (130)
rs60839437 Feb 26, 2009 (130)
rs111169537 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
26565274, ss3919387880 NC_000009.11:22134093:T:A NC_000009.12:22134094:T:A (self)
525172, ss66064046, ss75986202, ss170043166, ss280150195, ss285987888, ss1397551633, ss1596048741, ss1713099093, ss2635194098 NC_000009.10:22124093:T:C NC_000009.12:22134094:T:C (self)
45539431, 25332118, 456289, 18022898, 9194142, 11299891, 26565274, 9678735, 638139, 167200, 11739848, 23746420, 6303552, 50490640, 25332118, 5627092, ss224175948, ss234764887, ss241550389, ss479762335, ss491421335, ss561303806, ss655735666, ss986414542, ss1076193597, ss1333300101, ss1431782562, ss1583029205, ss1622458202, ss1665452235, ss1929697918, ss1946255407, ss1959173175, ss1971178691, ss2025560956, ss2094835220, ss2095220497, ss2153787198, ss2627255104, ss2634850098, ss2634850099, ss2709591773, ss2711159951, ss2876542304, ss2985458499, ss2986104589, ss3004538153, ss3022917204, ss3348570207, ss3625980850, ss3636952435, ss3644988719, ss3653468368, ss3654222526, ss3672284650, ss3736393870, ss3744317644, ss3744587248, ss3769037098, ss3798740378, ss3831586943, ss3871729440, ss3919387880, ss3984617755, ss3985412212, ss5192521333, ss5237456872, ss5386658220, ss5624716126, ss5647103152, ss5828981299, ss5847353897, ss5848201854, ss5976380988, ss5979889129 NC_000009.11:22134093:T:C NC_000009.12:22134094:T:C (self)
59610591, 320970800, 3801010, 21857751, 714001, 69530539, 653489790, 7469868109, ss2310213898, ss3026570211, ss3723661857, ss3726601652, ss3771492532, ss3812194174, ss3965479750, ss4816112229, ss5280135098, ss5476377723, ss5572084656, ss5735693435, ss5810428235, ss5856712264, ss5915918080 NC_000009.12:22134094:T:C NC_000009.12:22134094:T:C (self)
ss15954995, ss18606193, ss19057714 NT_008413.16:22124093:T:C NC_000009.12:22134094:T:C (self)
ss230393063 NT_008413.17:22124093:T:C NC_000009.12:22134094:T:C (self)
ss82771277, ss104605567, ss107934366, ss120256078, ss159924101, ss181341851, ss181834428, ss181835895, ss244270289, ss410889041, ss411632917 NT_008413.18:22124093:T:C NC_000009.12:22134094: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.

223 citations for rs10811661
PMID Title Author Year Journal
17786212 Heterogeneity in meta-analyses of genome-wide association investigations. Ioannidis JP et al. 2007 PloS one
17827400 Studies of association of variants near the HHEX, CDKN2A/B, and IGF2BP2 genes with type 2 diabetes and impaired insulin release in 10,705 Danish subjects: validation and extension of genome-wide association studies. Grarup N et al. 2007 Diabetes
17928989 Variations in the HHEX gene are associated with increased risk of type 2 diabetes in the Japanese population. Horikoshi M et al. 2007 Diabetologia
18162508 Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population. Omori S et al. 2008 Diabetes
18176561 The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm. Helgadottir A et al. 2008 Nature genetics
18224312 Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment. Brockmöller J et al. 2008 European journal of clinical pharmacology
18224336 Haplotypic analysis of Wellcome Trust Case Control Consortium data. Browning BL et al. 2008 Human genetics
18264689 Polymorphisms in the TCF7L2, CDKAL1 and SLC30A8 genes are associated with impaired proinsulin conversion. Kirchhoff K et al. 2008 Diabetologia
18368387 Strong association of common variants in the CDKN2A/CDKN2B region with type 2 diabetes in French Europids. Duesing K et al. 2008 Diabetologia
18423522 Estimating odds ratios in genome scans: an approximate conditional likelihood approach. Ghosh A et al. 2008 American journal of human genetics
18426861 Association analysis of type 2 diabetes Loci in type 1 diabetes. Qu HQ et al. 2008 Diabetes
18437351 Genetic analysis of recently identified type 2 diabetes loci in 1,638 unselected patients with type 2 diabetes and 1,858 control participants from a Norwegian population-based cohort (the HUNT study). Hertel JK et al. 2008 Diabetologia
18443202 Association analysis in african americans of European-derived type 2 diabetes single nucleotide polymorphisms from whole-genome association studies. Lewis JP et al. 2008 Diabetes
18461161 Post genome-wide association studies of novel genes associated with type 2 diabetes show gene-gene interaction and high predictive value. Cauchi S et al. 2008 PloS one
18469204 Implication of genetic variants near TCF7L2, SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, and FTO in type 2 diabetes and obesity in 6,719 Asians. Ng MC et al. 2008 Diabetes
18477659 Replication of genome-wide association studies of type 2 diabetes susceptibility in Japan. Horikawa Y et al. 2008 The Journal of clinical endocrinology and metabolism
18533027 Worldwide population differentiation at disease-associated SNPs. Myles S et al. 2008 BMC medical genomics
18544707 Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program. Moore AF et al. 2008 Diabetes
18565990 Systematic biological prioritization after a genome-wide association study: an application to nicotine dependence. Saccone SF et al. 2008 Bioinformatics (Oxford, England)
18591388 Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk. Lango H et al. 2008 Diabetes
18598350 Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk. Sanghera DK et al. 2008 BMC medical genetics
18633108 Common variants in CDKAL1, CDKN2A/B, IGF2BP2, SLC30A8, and HHEX/IDE genes are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population. Wu Y et al. 2008 Diabetes
18689899 Exchangeable models of complex inherited diseases. Slatkin M et al. 2008 Genetics
18694974 Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study. van Hoek M et al. 2008 Diabetes
18782870 Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008. Florez JC et al. 2008 The Journal of clinical endocrinology and metabolism
18991055 Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population. Lee YH et al. 2008 Journal of human genetics
19002430 Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population. Cho YM et al. 2009 Diabetologia
19008344 Association analysis of variation in/near FTO, CDKAL1, SLC30A8, HHEX, EXT2, IGF2BP2, LOC387761, and CDKN2B with type 2 diabetes and related quantitative traits in Pima Indians. Rong R et al. 2009 Diabetes
19019192 Association of genetic variation on chromosome 9p21.3 and arterial stiffness. Björck HM et al. 2009 Journal of internal medicine
19020323 Genotype score in addition to common risk factors for prediction of type 2 diabetes. Meigs JB et al. 2008 The New England journal of medicine
19033397 Replication study of candidate genes associated with type 2 diabetes based on genome-wide screening. Tabara Y et al. 2009 Diabetes
19033589 Interaction between poor glycemic control and 9p21 locus on risk of coronary artery disease in type 2 diabetes. Doria A et al. 2008 JAMA
19056611 Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data. Timpson NJ et al. 2009 Diabetes
19096518 Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study. Paré G et al. 2008 PLoS genetics
19207020 Meta-analysis in genome-wide association studies. Zeggini E et al. 2009 Pharmacogenomics
19214202 Identification of a shared genetic susceptibility locus for coronary heart disease and periodontitis. Schaefer AS et al. 2009 PLoS genetics
19228808 Type 2 diabetes risk alleles are associated with reduced size at birth. Freathy RM et al. 2009 Diabetes
19258437 Genetic variant in the IGF2BP2 gene may interact with fetal malnutrition to affect glucose metabolism. van Hoek M et al. 2009 Diabetes
19279076 Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men. Qi L et al. 2009 The American journal of clinical nutrition
19324937 Previously associated type 2 diabetes variants may interact with physical activity to modify the risk of impaired glucose regulation and type 2 diabetes: a study of 16,003 Swedish adults. Brito EC et al. 2009 Diabetes
19329499 A genetic variant on chromosome 9p21 and incident heart failure in the ARIC study. Yamagishi K et al. 2009 European heart journal
19341491 Genome-based prediction of common diseases: methodological considerations for future research. Janssens AC et al. 2009 Genome medicine
19343170 INK4/ARF transcript expression is associated with chromosome 9p21 variants linked to atherosclerosis. Liu Y et al. 2009 PloS one
19401414 Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population. Takeuchi F et al. 2009 Diabetes
19455305 No association of multiple type 2 diabetes loci with type 1 diabetes. Raj SM et al. 2009 Diabetologia
19460916 Genetic architecture of type 2 diabetes: recent progress and clinical implications. Grant RW et al. 2009 Diabetes care
19463184 Worldwide patterns of haplotype diversity at 9p21.3, a locus associated with type 2 diabetes and coronary heart disease. Silander K et al. 2009 Genome medicine
19474294 Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Hindorff LA et al. 2009 Proceedings of the National Academy of Sciences of the United States of America
19502414 Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men. Stancáková A et al. 2009 Diabetes
19526209 Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants? Southam L et al. 2009 Diabetologia
19578363 New common variants affecting susceptibility to basal cell carcinoma. Stacey SN et al. 2009 Nature genetics
19602701 Underlying genetic models of inheritance in established type 2 diabetes associations. Salanti G et al. 2009 American journal of epidemiology
19626703 Were genome-wide linkage studies a waste of time? Exploiting candidate regions within genome-wide association studies. Yoo YJ et al. 2010 Genetic epidemiology
19734549 Ranking of genome-wide association scan signals by different measures. Strömberg U et al. 2009 International journal of epidemiology
19741166 Common genetic determinants of glucose homeostasis in healthy children: the European Youth Heart Study. Kelliny C et al. 2009 Diabetes
19741467 Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea. Kang ES et al. 2009 Transplantation
19750184 Genome-wide association studies for atherosclerotic vascular disease and its risk factors. Ding K et al. 2009 Circulation. Cardiovascular genetics
19794065 Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes. Lango Allen H et al. 2010 Diabetes
19808892 Combined risk allele score of eight type 2 diabetes genes is associated with reduced first-phase glucose-stimulated insulin secretion during hyperglycemic clamps. 't Hart LM et al. 2010 Diabetes
19819472 Common genetic variants on chromosome 9p21 predict perioperative myocardial injury after coronary artery bypass graft surgery. Liu KY et al. 2010 The Journal of thoracic and cardiovascular surgery
19862325 PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population. Hu C et al. 2009 PloS one
19931040 Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies. Browning BL et al. 2009 American journal of human genetics
19956108 Analysis of 55 autoimmune disease and type II diabetes loci: further confirmation of chromosomes 4q27, 12q13.2 and 12q24.13 as type I diabetes loci, and support for a new locus, 12q13.3-q14.1. Cooper JD et al. 2009 Genes and immunity
19956539 How many genetic variants remain to be discovered? Pawitan Y et al. 2009 PloS one
20017978 Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study. Fradin DD et al. 2009 BMC proceedings
20018066 Epistatic interactions of CDKN2B-TCF7L2 for risk of type 2 diabetes and of CDKN2B-JAZF1 for triglyceride/high-density lipoprotein ratio longitudinal change: evidence from the Framingham Heart Study. An P et al. 2009 BMC proceedings
20043145 Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study. Ruchat SM et al. 2010 Diabetologia
20043853 Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus. Parikh H et al. 2009 BMC medical genomics
20049090 Association between type 2 diabetes loci and measures of fatness. Pecioska S et al. 2010 PloS one
20075150 Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study. Talmud PJ et al. 2010 BMJ (Clinical research ed.)
20142250 Diabetes genes and prostate cancer in the Atherosclerosis Risk in Communities study. Meyer TE et al. 2010 Cancer epidemiology, biomarkers & prevention
20144327 A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel. Lott L et al. 2009 Journal of diabetes science and technology
20161033 Personalized pharmacotherapy for Type 2 diabetes mellitus. Sathananthan A et al. 2009 Personalized medicine
20161779 Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort. Wen J et al. 2010 PloS one
20203524 Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk. Pierce BL et al. 2010 Human heredity
20309761 Genotype-based risk and pharmacogenetic sampling in clinical trials. Schork NJ et al. 2010 Journal of biopharmaceutical statistics
20362271 Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record. Ritchie MD et al. 2010 American journal of human genetics
20386740 Chromosome 9p21 SNPs Associated with Multiple Disease Phenotypes Correlate with ANRIL Expression. Cunnington MS et al. 2010 PLoS genetics
20403154 Common genetic variants on chromosome 9p21 are associated with myocardial infarction and type 2 diabetes in an Italian population. Gori F et al. 2010 BMC medical genetics
20424228 Impact of common variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the risk of type 2 diabetes in 5,164 Indians. Chauhan G et al. 2010 Diabetes
20435227 Clinical assessment incorporating a personal genome. Ashley EA et al. 2010 Lancet (London, England)
20509872 Implication of genetic variants near SLC30A8, HHEX, CDKAL1, CDKN2A/B, IGF2BP2, FTO, TCF2, KCNQ1, and WFS1 in type 2 diabetes in a Chinese population. Han X et al. 2010 BMC medical genetics
20532014 The epidemiology of diabetes in Korea: from the economics to genetics. Cho NH et al. 2010 Korean diabetes journal
20550665 Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population. Lin Y et al. 2010 BMC medical genetics
20605023 Association of an allele on chromosome 9 and abdominal aortic aneurysm. Biros E et al. 2010 Atherosclerosis
20712903 Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study. Morgan AR et al. 2010 BMC medical genetics
20802253 Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion. Heni M et al. 2010 Diabetes
20805105 Synthetic associations in the context of genome-wide association scan signals. Orozco G et al. 2010 Human molecular genetics
20816152 Obesity and diabetes genetic variants associated with gestational weight gain. Stuebe AM et al. 2010 American journal of obstetrics and gynecology
20858905 Association of single nucleotide polymorphisms on chromosome 9p21.3 with platelet reactivity: a potential mechanism for increased vascular disease. Musunuru K et al. 2010 Circulation. Cardiovascular genetics
20862305 Identification of new genetic risk variants for type 2 diabetes. Shu XO et al. 2010 PLoS genetics
20870969 Genetic predisposition to long-term nondiabetic deteriorations in glucose homeostasis: Ten-year follow-up of the GLACIER study. Renström F et al. 2011 Diabetes
20886378 Physiologic characterization of type 2 diabetes-related loci. Grarup N et al. 2010 Current diabetes reports
20923989 Design of the Coronary ARtery DIsease Genome-Wide Replication And Meta-Analysis (CARDIoGRAM) Study: A Genome-wide association meta-analysis involving more than 22 000 cases and 60 000 controls. Preuss M et al. 2010 Circulation. Cardiovascular genetics
20980412 Impact of positive family history and genetic risk variants on the incidence of diabetes: the Finnish Diabetes Prevention Study. Uusitupa MI et al. 2011 Diabetes care
21084393 Type 2 diabetes (T2D) associated polymorphisms regulate expression of adjacent transcripts in transformed lymphocytes, adipose, and muscle from Caucasian and African-American subjects. Sharma NK et al. 2011 The Journal of clinical endocrinology and metabolism
21091714 The genetics of type 2 diabetes: what have we learned from GWAS? Billings LK et al. 2010 Annals of the New York Academy of Sciences
21103332 Combined effects of 19 common variations on type 2 diabetes in Chinese: results from two community-based studies. Xu M et al. 2010 PloS one
21124985 Integrated genetic and epigenetic analysis identifies haplotype-specific methylation in the FTO type 2 diabetes and obesity susceptibility locus. Bell CG et al. 2010 PloS one
21146954 Genes and abdominal aortic aneurysm. Hinterseher I et al. 2011 Annals of vascular surgery
21150882 Replication of genetic variants from genome-wide association studies with metabolic traits in an island population of the Adriatic coast of Croatia. Karns R et al. 2011 European journal of human genetics
21191145 Polymorphisms associated with type 2 diabetes in familial longevity: The Leiden Longevity Study. Mooijaart SP et al. 2011 Aging
21217814 Presymptomatic risk assessment for chronic non-communicable diseases. Padhukasahasram B et al. 2010 PloS one
21234743 Glucose tolerance, insulin sensitivity and insulin release in European non-diabetic carriers of a polymorphism upstream of CDKN2A and CDKN2B. Hribal ML et al. 2011 Diabetologia
21270277 The same chromosome 9p21.3 locus is associated with type 2 diabetes and coronary artery disease in a Chinese Han population. Cheng X et al. 2011 Diabetes
21278902 Genetic risk profiling for prediction of type 2 diabetes. Mihaescu R et al. 2011 PLoS currents
21283728 Genetic variants of diabetes risk and incident cardiovascular events in chronic coronary artery disease. Sousa AG et al. 2011 PloS one
21297524 The 1p13.3 LDL (C)-associated locus shows large effect sizes in young populations. Devaney JM et al. 2011 Pediatric research
21315566 Type 2 diabetes and polymorphisms on chromosome 9p21: a meta-analysis. Cugino D et al. 2012 Nutrition, metabolism, and cardiovascular diseases
21368910 Heterogeneity of genetic associations of CDKAL1 and HHEX with susceptibility of type 2 diabetes mellitus by gender. Ryoo H et al. 2011 European journal of human genetics
21378175 Updated genetic score based on 34 confirmed type 2 diabetes Loci is associated with diabetes incidence and regression to normoglycemia in the diabetes prevention program. Hivert MF et al. 2011 Diabetes
21407270 Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration. Janssens AC et al. 2011 European journal of human genetics
21421807 Effects of 34 risk loci for type 2 diabetes or hyperglycemia on lipoprotein subclasses and their composition in 6,580 nondiabetic Finnish men. Stančáková A et al. 2011 Diabetes
21424820 Strengthening the reporting of genetic risk prediction studies (GRIPS): explanation and elaboration. Janssens AC et al. 2011 European journal of epidemiology
21444075 Type 2 diabetes susceptibility single-nucleotide polymorphisms are not associated with polycystic ovary syndrome. Ewens KG et al. 2011 Fertility and sterility
21467728 Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study. Wakai K et al. 2011 Journal of epidemiology
21565292 Random-effects model aimed at discovering associations in meta-analysis of genome-wide association studies. Han B et al. 2011 American journal of human genetics
21573907 Genome-wide association study of type 2 diabetes in a sample from Mexico City and a meta-analysis of a Mexican-American sample from Starr County, Texas. Parra EJ et al. 2011 Diabetologia
21625859 Association between type 2 diabetes and CDKN2A/B: a meta-analysis study. Bao XY et al. 2012 Molecular biology reports
21775993 Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction. Shea J et al. 2011 Nature genetics
21804106 Comparative analysis of genome-wide association studies signals for lipids, diabetes, and coronary heart disease: Cardiovascular Biomarker Genetics Collaboration. Angelakopoulou A et al. 2012 European heart journal
21911746 Effects of genetic susceptibility for type 2 diabetes on the evolution of glucose homeostasis traits before and after diabetes diagnosis: data from the D.E.S.I.R. Study. Gautier A et al. 2011 Diabetes
22038522 Common genetic variants differentially influence the transition from clinically defined states of fasting glucose metabolism. Walford GA et al. 2012 Diabetologia
22052079 Association analysis of 31 common polymorphisms with type 2 diabetes and its related traits in Indian sib pairs. Gupta V et al. 2012 Diabetologia
22096510 Association of six single nucleotide polymorphisms with gestational diabetes mellitus in a Chinese population. Wang Y et al. 2011 PloS one
22113416 Single nucleotide polymorphisms in JAZF1 and BCL11A gene are nominally associated with type 2 diabetes in African-American families from the GENNID study. Langberg KA et al. 2012 Journal of human genetics
22119613 Replication study of common variants in CDKAL1 and CDKN2A/2B genes associated with type 2 diabetes in Lebanese Arab population. Nemr R et al. 2012 Diabetes research and clinical practice
22233651 A genome-wide association study of gestational diabetes mellitus in Korean women. Kwak SH et al. 2012 Diabetes
22293688 1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 Data. Huang J et al. 2012 European journal of human genetics
22307069 Association of type 2 diabetes susceptibility loci with one-year weight loss in the look AHEAD clinical trial. Peter I et al. 2012 Obesity (Silver Spring, Md.)
22333905 Estimating the contribution of genetic variants to difference in incidence of disease between population groups. Moonesinghe R et al. 2012 European journal of human genetics
22350825 Genetic predisposition to type 2 diabetes is associated with impaired insulin secretion but does not modify insulin resistance or secretion in response to an intervention to lower dietary saturated fat. Walker CG et al. 2012 Genes & nutrition
22364391 The combined effect of the T2DM susceptibility genes is an important risk factor for T2DM in non-obese Japanese: a population based case-control study. Yamakawa-Kobayashi K et al. 2012 BMC medical genetics
22377712 Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography. Hotta K et al. 2012 Journal of human genetics
22558147 Lack of association of type 2 diabetes susceptibility genotypes and body weight on the development of islet autoimmunity and type 1 diabetes. Winkler C et al. 2012 PloS one
22569928 Analysis of common type 2 diabetes mellitus genetic risk factors in new-onset diabetes after transplantation in kidney transplant patients medicated with tacrolimus. Kurzawski M et al. 2012 European journal of clinical pharmacology
22623142 Association between type 2 diabetes and rs10811661 polymorphism upstream of CDKN2A/B: a meta-analysis. Li H et al. 2013 Acta diabetologica
22623978 A replication study of GWAS-derived lipid genes in Asian Indians: the chromosomal region 11q23.3 harbors loci contributing to triglycerides. Braun TR et al. 2012 PloS one
22643932 SNP in the genome-wide association study hotspot on chromosome 9p21 confers susceptibility to diabetic nephropathy in type 1 diabetes. Fagerholm E et al. 2012 Diabetologia
22676277 Vascular associated gene variants in patients with preeclampsia: results from the Danish National Birth Cohort. Lykke JA et al. 2012 Acta obstetricia et gynecologica Scandinavica
22708638 Effect of communicating genetic and phenotypic risk for type 2 diabetes in combination with lifestyle advice on objectively measured physical activity: protocol of a randomised controlled trial. Godino JG et al. 2012 BMC public health
22856518 Higher incidence of death in multi-vessel coronary artery disease patients associated with polymorphisms in chromosome 9p21. Gioli-Pereira L et al. 2012 BMC cardiovascular disorders
22923468 Contribution of common genetic variation to the risk of type 2 diabetes in the Mexican Mestizo population. Gamboa-Meléndez MA et al. 2012 Diabetes
22972441 Genetic and environmental factors associated with type 2 diabetes and diabetic vascular complications. Murea M et al. 2012 The review of diabetic studies
23013243 Maternal and offspring fasting glucose and type 2 diabetes-associated genetic variants and cognitive function at age 8: a Mendelian randomization study in the Avon Longitudinal Study of Parents and Children. Bonilla C et al. 2012 BMC medical genetics
23073174 From genotype to human β cell phenotype and beyond. Marchetti P et al. 2012 Islets
23134948 Association between 9p21 genetic variants and mortality risk in a prospective cohort of patients with type 2 diabetes (ZODIAC-15). Landman GW et al. 2012 Cardiovascular diabetology
23185337 Joint effect of genetic and lifestyle risk factors on type 2 diabetes risk among Chinese men and women. Villegas R et al. 2012 PloS one
23185617 Genetic variant SLC2A2 [corrected] Is associated with risk of cardiovascular disease – assessing the individual and cumulative effect of 46 type 2 diabetes related genetic variants. Borglykke A et al. 2012 PloS one
23193118 Association of type 2 diabetes susceptibility variants with advanced prostate cancer risk in the Breast and Prostate Cancer Cohort Consortium. Machiela MJ et al. 2012 American journal of epidemiology
23298195 Association study of genetic variants of 17 diabetes-related genes/loci and cardiovascular risk and diabetic nephropathy in the Chinese She population. Chen G et al. 2013 Journal of diabetes
23349771 Association study of 25 type 2 diabetes related Loci with measures of obesity in Indian sib pairs. Gupta V et al. 2013 PloS one
23458876 ACE I/D and MTHFR C677T polymorphisms are significantly associated with type 2 diabetes in Arab ethnicity: a meta-analysis. Al-Rubeaan K et al. 2013 Gene
23532257 Genome-wide association study in a Chinese population identifies a susceptibility locus for type 2 diabetes at 7q32 near PAX4. Ma RC et al. 2013 Diabetologia
23770741 Association analyses of insulin signaling pathway gene polymorphisms with healthy aging and longevity in Americans of Japanese ancestry. Morris BJ et al. 2014 The journals of gerontology. Series A, Biological sciences and medical sciences
24012816 The relationship between five widely-evaluated variants in CDKN2A/B and CDKAL1 genes and the risk of type 2 diabetes: a meta-analysis. Peng F et al. 2013 Gene
24218030 Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach. O'Brien KM et al. 2014 American journal of epidemiology
24278702 The complex interplay of genetic and lifestyle risk factors in type 2 diabetes: an overview. Franks PW et al. 2012 Scientifica
24356749 Search for genetic determinants of sulfonylurea efficacy in type 2 diabetic patients from China. Ren Q et al. 2014 Diabetologia
24637646 Cross-sectional and longitudinal replication analyses of genome-wide association loci of type 2 diabetes in Han Chinese. Zhao Q et al. 2014 PloS one
24719615 Genetic susceptibility to type 2 diabetes and obesity: follow-up of findings from genome-wide association studies. Basile KJ et al. 2014 International journal of endocrinology
24736664 Validation of type 2 diabetes risk variants identified by genome-wide association studies in Han Chinese population: a replication study and meta-analysis. Chang YC et al. 2014 PloS one
24845081 Gene-lifestyle interaction and type 2 diabetes: the EPIC interact case-cohort study. Langenberg C et al. 2014 PLoS medicine
24864266 Genetics of type 2 diabetes: insights into the pathogenesis and its clinical application. Sun X et al. 2014 BioMed research international
24926958 Evaluation of common type 2 diabetes risk variants in a South Asian population of Sri Lankan descent. Hassanali N et al. 2014 PloS one
24929251 Gene-carbohydrate and gene-fiber interactions and type 2 diabetes in diverse populations from the National Health and Nutrition Examination Surveys (NHANES) as part of the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study. Villegas R et al. 2014 BMC genetics
24935819 Exploring genetic variants predisposing to diabetes mellitus and their association with indicators of socioeconomic status. Schmidt B et al. 2014 BMC public health
24959828 Genetic association study with metabolic syndrome and metabolic-related traits in a cross-sectional sample and a 10-year longitudinal sample of chinese elderly population. Yang J et al. 2014 PloS one
24982668 Estimating the predictive ability of genetic risk models in simulated data based on published results from genome-wide association studies. Kundu S et al. 2014 Frontiers in genetics
25145545 Does genetic heterogeneity account for the divergent risk of type 2 diabetes in South Asian and white European populations? Sohani ZN et al. 2014 Diabetologia
25239271 Fine mapping of type 2 diabetes susceptibility loci. Morris AP et al. 2014 Current diabetes reports
25393876 Identification of allelic heterogeneity at type-2 diabetes loci and impact on prediction. Klimentidis YC et al. 2014 PloS one
25587982 Cumulative effect and predictive value of genetic variants associated with type 2 diabetes in Han Chinese: a case-control study. Qian Y et al. 2015 PloS one
25774817 Genetics of type 2 diabetes-pitfalls and possibilities. Prasad RB et al. 2015 Genes
25839936 Diabetes susceptibility in Mayas: Evidence for the involvement of polymorphisms in HHEX, HNF4α, KCNJ11, PPARγ, CDKN2A/2B, SLC30A8, CDC123/CAMK1D, TCF7L2, ABCA1 and SLC16A11 genes. Lara-Riegos JC et al. 2015 Gene
25951190 Networks in Coronary Heart Disease Genetics As a Step towards Systems Epidemiology. Drenos F et al. 2015 PloS one
26042206 Gene-gene and gene-environment interactions in the etiology of type 2 diabetes mellitus in the population of Hyderabad, India. Uma Jyothi K et al. 2015 Meta gene
26139146 TOX and CDKN2A/B Gene Polymorphisms Are Associated with Type 2 Diabetes in Han Chinese. Wei F et al. 2015 Scientific reports
26240488 Utilizing Genetic Predisposition Score in Predicting Risk of Type 2 Diabetes Mellitus Incidence: A Community-based Cohort Study on Middle-aged Koreans. Park HY et al. 2015 Journal of Korean medical science
26299860 [The HHEX rs1111875A/G gene polymorphism is associated with susceptibility to type 2 diabetes in the Iranian population]. Mansoori Y et al. 2015 Molekuliarnaia biologiia
26334876 CDKN2A-rs10811661 polymorphism, waist-hip ratio, systolic blood pressure, and dyslipidemia are the independent risk factors for prediabetes in a Vietnamese population. Binh TQ et al. 2015 BMC genetics
26499758 Association of type 2 diabetes GWAS loci and the risk of Parkinson's and Alzheimer's diseases. Chung SJ et al. 2015 Parkinsonism & related disorders
26648684 Update on genetics and diabetic retinopathy. Hampton BM et al. 2015 Clinical ophthalmology (Auckland, N.Z.)
26789123 A HuGE Review and Meta-Analyses of Genetic Associations in New Onset Diabetes after Kidney Transplantation. Benson KA et al. 2016 PloS one
26818947 Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes. Imamura M et al. 2016 Nature communications
26873362 Gene Polymorphism Association with Type 2 Diabetes and Related Gene-Gene and Gene-Environment Interactions in a Uyghur Population. Xiao S et al. 2016 Medical science monitor
26911676 Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms. Horikoshi M et al. 2016 Human molecular genetics
26964836 Recent progress in genetic and epigenetic research on type 2 diabetes. Kwak SH et al. 2016 Experimental & molecular medicine
27049325 Risk Alleles in/near ADCY5, ADRA2A, CDKAL1, CDKN2A/B, GRB10, and TCF7L2 Elevate Plasma Glucose Levels at Birth and in Early Childhood: Results from the FAMILY Study. Sohani ZN et al. 2016 PloS one
27053236 Evaluation of type 2 diabetes genetic risk variants in Chinese adults: findings from 93,000 individuals from the China Kadoorie Biobank. Gan W et al. 2016 Diabetologia
27061195 Studying the Genetics of Complex Disease With Ancestry-Specific Human Phenotype Networks: The Case of Type 2 Diabetes in East Asian Populations. Qiu J et al. 2016 Genetic epidemiology
27189021 Multi-ethnic genome-wide association study identifies novel locus for type 2 diabetes susceptibility. Cook JP et al. 2016 European journal of human genetics
27281091 Genetic variants associated with lean and obese type 2 diabetes in a Han Chinese population: A case-control study. Kong X et al. 2016 Medicine
27310578 Replication and Relevance of Multiple Susceptibility Loci Discovered from Genome Wide Association Studies for Type 2 Diabetes in an Indian Population. Phani NM et al. 2016 PloS one
27377502 Association of CDKAL1, CDKN2A/B & HHEX gene polymorphisms with type 2 diabetes mellitus in the population of Hyderabad, India. Kommoju UJ et al. 2016 The Indian journal of medical research
27383215 Type 2 Diabetes Risk Allele Loci in the Qatari Population. O'Beirne SL et al. 2016 PloS one
27424552 Genomics era and complex disorders: Implications of GWAS with special reference to coronary artery disease, type 2 diabetes mellitus, and cancers. Pranavchand R et al. 2016 Journal of postgraduate medicine
27507036 Association of rs10811656 on 9P21.3 with the risk of coronary artery disease in a Chinese population. Yan J et al. 2016 Lipids in health and disease
27589775 Validation of Type 2 Diabetes Risk Variants Identified by Genome-Wide Association Studies in Northern Han Chinese. Rao P et al. 2016 International journal of environmental research and public health
27768686 Effect of Insulin Resistance on Monounsaturated Fatty Acid Levels: A Multi-cohort Non-targeted Metabolomics and Mendelian Randomization Study. Nowak C et al. 2016 PLoS genetics
28065479 Interaction between a variant of CDKN2A/B-gene with lifestyle factors in determining dyslipidemia and estimated cardiovascular risk: A step toward personalized nutrition. Mehramiz M et al. 2018 Clinical nutrition (Edinburgh, Scotland)
28079868 CDC123/CAMK1D gene rs12779790 polymorphism and rs10811661 polymorphism upstream of the CDKN2A/2B gene in women with gestational diabetes. Tarnowski M et al. 2017 Journal of perinatology
28202837 Association of common polymorphisms with gestational diabetes mellitus in Japanese women: A case-control study. Kasuga Y et al. 2017 Endocrine journal
28276595 A genetic variant in CDKN2A/B gene is associated with the increased risk of breast cancer. ShahidSales S et al. 2018 Journal of clinical laboratory analysis
28717589 Association of polymorphic markers of genes FTO, KCNJ11, CDKAL1, SLC30A8, and CDKN2B with type 2 diabetes mellitus in the Russian population. Nikitin AG et al. 2017 PeerJ
28738793 Association between 28 single nucleotide polymorphisms and type 2 diabetes mellitus in the Kazakh population: a case-control study. Sikhayeva N et al. 2017 BMC medical genetics
28821857 CDKAL1 rs7756992 is associated with diabetic retinopathy in a Chinese population with type 2 diabetes. Peng D et al. 2017 Scientific reports
29128291 Detection of SNPs of T2DM susceptibility genes by a ligase detection reaction-fluorescent nanosphere technique. Chen Y et al. 2018 Analytical biochemistry
29432124 CDKN2A/B T2D Genome-Wide Association Study Risk SNPs Impact Locus Gene Expression and Proliferation in Human Islets. Kong Y et al. 2018 Diabetes
29498170 Pharmacogenetics of Dopamine β-Hydroxylase in cocaine dependence therapy with doxazosin. Zhang X et al. 2019 Addiction biology
29544538 Variants of CDKAL1 rs7754840 (G/C) and CDKN2A/2B rs10811661 (C/T) with gestational diabetes: insignificant association. Noury AE et al. 2018 BMC research notes
29871606 Impact of KCNQ1, CDKN2A/2B, CDKAL1, HHEX, MTNR1B, SLC30A8, TCF7L2, and UBE2E2 on risk of developing type 2 diabetes in Thai population. Plengvidhya N et al. 2018 BMC medical genetics
30074174 Meta-analysis of GABRB3 Gene Polymorphisms and Susceptibility to Autism Spectrum Disorder. Noroozi R et al. 2018 Journal of molecular neuroscience
30237658 Association between gene polymorphisms and obesity and physical fitness in Korean children. Kim HJ et al. 2018 Biology of sport
30238987 A genetic variant in CDKN2A/2B locus was associated with poor prognosis in patients with esophageal squamous cell carcinoma. Ghobadi N et al. 2019 Journal of cellular physiology
30362613 Evaluation of the two polymorphisms rs1801133 in MTHFR and rs10811661 in CDKN2A/B in breast cancer. Hesari A et al. 2019 Journal of cellular biochemistry
30393491 Association of common polymorphisms in the VEGFA and SIRT1 genes with type 2 diabetes-related traits in Mexicans. Totomoch-Serra A et al. 2018 Archives of medical science
31299695 Common Type 2 Diabetes Genetic Risk Variants Improve the Prediction of Gestational Diabetes. Dziedziejko V et al. 2019 Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme
32431299 Modification effects of T2DM-susceptible SNPs on the reduction of blood glucose in response to lifestyle interventions. Wang YZ et al. 2020 Yi chuan = Hereditas
32722593 Coffee Consumption, Genetic Polymorphisms, and the Risk of Type 2 Diabetes Mellitus: A Pooled Analysis of Four Prospective Cohort Studies. Kim AN et al. 2020 International journal of environmental research and public health
33122978 The association of a genetic variant in CDKN2A/B gene and the risk of colorectal cancer. Rahmani F et al. 2020 EXCLI journal
35124268 Mendelian Randomization Analysis Reveals No Causal Relationship Between Nonalcoholic Fatty Liver Disease and Severe COVID-19. Li J et al. 2022 Clinical gastroenterology and hepatology
35685576 Association between Genetic Polymorphisms and Risk of Kidney Posttransplant Diabetes Mellitus: A Systematic Review and Meta-Analysis. Xu S et al. 2022 International journal of clinical practice
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