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SNP rs5219
Basic Information
Name
rs5219
Chromosome
11
Position
17388025
Weight of evidence
89
Genotype Frequency
Allele Frequency
Additional Information
SNPedia (3)
PLoS (28)
Mendeley (12)
Personal Genome Project (1)
Genome.gov (2)
Other users (1694)
Comments (0)
Links to SNPedia
Title
Summary
rs5219 C/T
1.3x increased risk for type-2 diabetes
rs5219 T/T
2.5x increased risk for type-2 diabetes
rs5219 C/C
Normal
Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).
Publications on this SNP on the Public Library of Science:
First Author
Title
Year of Publication
# of readers
Angela M Hancock
Adaptations to Climate in Candidate Genes for Common Metabolic Disorders
2008
24524
Hongyan Mao
Meta-Analysis of the Relationship between Common Type 2 Diabetes Risk Gene Variants with Gestational Diabetes Mellitus
2012
7343
Slavica Pecioska
Association between Type 2 Diabetes Loci and Measures of Fatness
2010
16908
Katarzyna Linder
Allele Summation of Diabetes Risk Genes Predicts Impaired Glucose Tolerance in Female and Obese Individuals
2012
3246
Chloe Y. Y. Cheung
The
KCNJ11
E23K Polymorphism and Progression of Glycaemia in Southern Chinese: A Long-Term Prospective Study
2011
4292
Kevin M. Waters
Consistent Association of Type 2 Diabetes Risk Variants Found in Europeans in Diverse Racial and Ethnic Groups
2010
10269
Steven Haney
RNAi Screening in Primary Human Hepatocytes of Genes Implicated in Genome-Wide Association Studies for Roles in Type 2 Diabetes Identifies Roles for CAMK1D and CDKAL1, among Others, in Hepatic Glucose Regulation
2013
4518
Christopher G. Bell
Integrated Genetic and Epigenetic Analysis Identifies Haplotype-Specific Methylation in the
FTO
Type 2 Diabetes and Obesity Susceptibility Locus
2010
20501
Jie Wen
Investigation of Type 2 Diabetes Risk Alleles Support
CDKN2A/B
,
CDKAL1
, and
TCF7L2
As Susceptibility Genes in a Han Chinese Cohort
2010
6722
Yun Qian
Cumulative Effect and Predictive Value of Genetic Variants Associated with Type 2 Diabetes in Han Chinese: A Case-Control Study
2015
2756
Birgit-Christiane Zyriax
The Association of Genetic Markers for Type 2 Diabetes with Prediabetic Status - Cross-Sectional Data of a Diabetes Prevention Trial
2013
4027
John P.A. Ioannidis
Heterogeneity in Meta-Analyses of Genome-Wide Association Investigations
2007
10623
André Gustavo P. Sousa
Genetic Variants of Diabetes Risk and Incident Cardiovascular Events in Chronic Coronary Artery Disease
2011
2482
Cheng Hu
PPARG
,
KCNJ11
,
CDKAL1
,
CDKN2A-CDKN2B
,
IDE-KIF11-HHEX
,
IGF2BP2
and
SLC30A8
Are Associated with Type 2 Diabetes in a Chinese Population
2009
8909
Ling Qiu
Quantitative Assessment of the Effect of
KCNJ11
Gene Polymorphism on the Risk of Type 2 Diabetes
2014
3767
Neelam Hassanali
Evaluation of Common Type 2 Diabetes Risk Variants in a South Asian Population of Sri Lankan Descent
2014
2404
Yudi Pawitan
How Many Genetic Variants Remain to Be Discovered?
2009
4574
Claudia H. T. Tam
Use of Net Reclassification Improvement (NRI) Method Confirms The Utility of Combined Genetic Risk Score to Predict Type 2 Diabetes
2013
5559
Rong Chen
Type 2 Diabetes Risk Alleles Demonstrate Extreme Directional Differentiation among Human Populations, Compared to Other Diseases
2012
13053
Christopher S. Carlson
Generalization and Dilution of Association Results from European GWAS in Populations of Non-European Ancestry: The PAGE Study
2013
11035
Valeriya Lyssenko
Genetic Prediction of Future Type 2 Diabetes
2005
21435
Nagaraja M. Phani
Population Specific Impact of Genetic Variants in
KCNJ11
Gene to Type 2 Diabetes: A Case-Control and Meta-Analysis Study
2014
3440
Rosalind J. Neuman
Gene-Gene Interactions Lead to Higher Risk for Development of Type 2 Diabetes in an Ashkenazi Jewish Population
2010
6088
Ekaterina Alekseevna Sokolova
Replication of
KCNJ11
(p.E23K) and
ABCC8
(p.S1369A) Association in Russian Diabetes Mellitus 2 Type Cohort and Meta-Analysis
2015
2356
Sameer D. Pant
Comparative Analyses of QTLs Influencing Obesity and Metabolic Phenotypes in Pigs and Humans
2015
3016
Alicia Huerta-Chagoya
Genetic Determinants for Gestational Diabetes Mellitus and Related Metabolic Traits in Mexican Women
2015
5509
Maria A. Matuszek
Increased Insulin following an Oral Glucose Load, Genetic Variation near the Melatonin Receptor
MTNR1B
, but No Biochemical Evidence of Endothelial Dysfunction in Young Asian Men and Women
2015
1455
Katherine Angela Benson
A HuGE Review and Meta-Analyses of Genetic Associations in New Onset Diabetes after Kidney Transplantation
2016
2223
Publications on this SNP on Mendeley
First Author
Title
Pub. Year
# of Readers
DOI
B Gong
The effect of KCNJ11 polymorphism on the risk of type 2 diabetes: A global meta-analysis based on 49 case-control studies
2012
1
-
Norihide Yokoi
Association Studies of Variants in the Genes Involved in Pancreatic 尾-Cell Function in Type 2 Diabetes in Japanese Subjects
2006
1
10.2337/db05-1203
Beatriz Tavira
Association between a common KCNJ11 polymorphism (rs5219) and new-onset posttransplant diabetes in patients treated with Tacrolimus
2012
11
10.1016/j.ymgme.2011.12.020
Ling Qiu
Quantitative Assessment of the Effect of KCNJ11 Gene Polymorphism on the Risk of Type 2 Diabetes.
2014
1
10.1371/journal.pone.0093961
Bo Gong
The effect of KCNJ11 polymorphism on the risk of type 2 diabetes: a global meta-analysis based on 49 case-control studies.
2012
3
10.1089/dna.2011.1445
Norihide Yokoi
Association studies of variants in the genes involved in pancreatic beta-cell function in type 2 diabetes in Japanese subjects.
2006
12
-
Juan M. Díaz
Association between a common KCNJ11 polymorphism (rs5219) and new-onset posttransplant diabetes in patients treated with Tacrolimus
2012
10
10.1016/j.ymgme.2011.12.020
Lijuan Yang
Association between KCNJ11 gene polymorphisms and risk of type 2 diabetes mellitus in East Asian populations: a meta-analysis in 42,573 individuals.
2012
1
10.1007/s11033-011-0782-6
Gang Chen
Association study of genetic variants of 17 diabetes-related genes/loci and cardiovascular risk, diabetic nephropathy in the Chinese She population.
2013
2
10.1111/1753-0407.12025
Bo Gong
The effect of KCNJ11 polymorphism on the risk of type 2 diabetes: a global meta-analysis based on 49 case-control studies.
2012
2
10.1089/dna.2011.1445
I Cheng
Type 2 diabetes risk variants and colorectal cancer risk: The Multiethnic Cohort and PAGE studies
2011
1
James B Meigs
Genome-wide association with diabetes-related traits in the Framingham Heart Study
2007
19
10.1186/1471-2350-8-S1-S16
Evidence compiled by the
Personal Genome Project
Gene
Impact
Trait
Summary
Inheritance
KCNJ11
Low clinical importance, Likely protective
This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.
unknown
Publications listed by
Genome.gov
First Author
Title
Journal
Publication Date
Trait
p-value
Confidence Interval
Timpson NJ
Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.
Diabetes
12/03/2008
Type 2 diabetes
1.0e-09 (non-obese)
[1.16-1.34]
Scott LJ
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.
Science
04/26/2007
Type 2 diabetes
7.0e-11 (DGI+FUSION+WTCCC)
[1.10-1.19]
Users who share this SNP:
Genome Browser