{{Rsnum
|rsid=5215
|Gene=KCNJ11
|Chromosome=11
|position=17387083
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.2801
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=KCNJ11
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 12.4 | 54.9 | 32.7
| HCB | 15.3 | 45.3 | 39.4
| JPT | 10.6 | 44.2 | 45.1
| YRI | 0.0 | 2.0 | 98.0
| ASW | 3.5 | 28.1 | 68.4
| CHB | 15.3 | 45.3 | 39.4
| CHD | 12.8 | 48.6 | 38.5
| GIH | 17.0 | 47.0 | 36.0
| LWK | 0.0 | 4.5 | 95.5
| MEX | 19.0 | 48.3 | 32.8
| MKK | 0.0 | 11.5 | 88.5
| TSI | 8.8 | 42.2 | 49.0
| HapMapRevision=28
}}

The association between [[type-1 diabetes]] and [[rs5215]] is mentioned as being replicated in {{PMID|17554300|OA=1
}}; there is also a 90% correlation between [[rs5215]] and [[rs5219]].

{{ neighbor
| rsid = 28936678
| distance = 569
}}

{{Venter SNP
|rsid=5215
|allele=T
|frequency=0.592
|uid=1103649619608
|type=homozygous_SNP
|hugo=KCNJ11
|ensembl gene=ENSG00000187486
|ensembl transcript=ENST00000339994
|sift=TOLERATED
|disease=Defects in KCNJ11 may contribute to non-insulin-dependent diabetes mellitus (NIDDM), also known as type II diabetes mellitus.
}}

{{PMID Auto GWAS
|PMID=18372903
|Trait=Type 2 diabetes
|Title=Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
|RiskAllele=C
|Pval=3.9999999999999998E-7
|OR=1.16
|ORtxt=[1.09-1.23]
|OA=1
}}
{{PMID Auto GWAS
|PMID=17463249
|Trait=Type 2 diabetes
|Title=Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
|RiskAllele=C
|Pval=5.0000000000000002E-11
|OR=1.14
|ORtxt=[1.10-1.19]
|OA=1
}}

{{PMID Auto
|PMID=20043145
|Title=Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study
|OA=1
}}

{{PMID Auto
|PMID=20802253
|Title=Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion
|OA=1
}}

{{PMID Auto
|PMID=22569928
|Title=Analysis of common type 2 diabetes mellitus genetic risk factors in new-onset diabetes after transplantation in kidney transplant patients medicated with tacrolimus
|OA=1
}}

{{PMID Auto
|PMID=16733889
|Title=[Association analysis of 30 type 2 diabetes candidate genes in Chinese Han population].
}}

{{PMID Auto
|PMID=17786212
|Title=Heterogeneity in meta-analyses of genome-wide association investigations.
|OA=1
}}

{{PMID Auto
|PMID=18426861
|Title=Association analysis of type 2 diabetes Loci in type 1 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=18533027
|Title=Worldwide population differentiation at disease-associated SNPs.
|OA=1
}}

{{PMID Auto
|PMID=18591388
|Title=Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.
|OA=1
}}

{{PMID Auto
|PMID=19002430
|Title=Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population.
}}

{{PMID Auto
|PMID=19096518
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=19526209
|Title=Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
|OA=1
}}

{{PMID Auto
|PMID=19931040
|Title=Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.
|OA=1
}}

{{PMID Auto
|PMID=20017978
|Title=Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=20018041
|Title=The effect of multiple genetic variants in predicting the risk of type 2 diabetes.
|OA=1
}}

{{PMID Auto
|PMID=20018066
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=20144327
|Title=A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.
|OA=1
}}

{{PMID Auto
|PMID=20550665
|Title=Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population.
|OA=1
}}

{{PMID Auto
|PMID=21573802
|Title=Association between KCNJ11 gene polymorphisms and risk of type 2 diabetes mellitus in East Asian populations: a meta-analysis in 42,573 individuals.
}}

{{PMID Auto
|PMID=22377712
|Title=Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.
}}

{{GET Evidence
|gene=KCNJ11
|aa_change=Val250Ile
|aa_change_short=V250I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs5215
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=2
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|autoscore=3
|webscore=N
}}

{{PMID Auto
|PMID=22438186
|Title=A SNP in G6PC2 predicts insulin secretion in type 1 diabetes
}}

{{PMID Auto
|PMID=25247988
|Title=Population Specific Impact of Genetic Variants in KCNJ11 Gene to Type 2 Diabetes: A Case-Control and Meta-Analysis Study
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}