rs5215
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs5215(C;T) |
| Make rs5215(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 17387083 |
| Gene | KCNJ11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5215 |
| dbSNP (classic) | rs5215 |
| ClinGen | rs5215 |
| ebi | rs5215 |
| HLI | rs5215 |
| Exac | rs5215 |
| Gnomad | rs5215 |
| Varsome | rs5215 |
| LitVar | rs5215 |
| Map | rs5215 |
| PheGenI | rs5215 |
| Biobank | rs5215 |
| 1000 genomes | rs5215 |
| hgdp | rs5215 |
| ensembl | rs5215 |
| geneview | rs5215 |
| scholar | rs5215 |
| rs5215 | |
| pharmgkb | rs5215 |
| gwascentral | rs5215 |
| openSNP | rs5215 |
| 23andMe | rs5215 |
| SNPshot | rs5215 |
| SNPdbe | rs5215 |
| MSV3d | rs5215 |
| GWAS Ctlg | rs5215 |
| GMAF | 0.2801 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
The association between type-1 diabetes and rs5215 is mentioned as being replicated in [PMID 17554300
]; there is also a 90% correlation between rs5215 and rs5219.
| GWAS snp | |
|---|---|
| PMID | [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 |
| Risk Allele | C |
| P-val | 3.9999999999999998E-7 |
| Odds Ratio | 1.16 [1.09-1.23] |
| GWAS snp | |
|---|---|
| PMID | [PMID 17463249]
|
| Trait | Type 2 diabetes |
| Title | Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes |
| Risk Allele | C |
| P-val | 5.0000000000000002E-11 |
| Odds Ratio | 1.14 [1.10-1.19] |
[PMID 20043145] Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study
[PMID 20802253] Glycemia determines the effect of type 2 diabetes risk genes on insulin secretion
[PMID 22569928] Analysis of common type 2 diabetes mellitus genetic risk factors in new-onset diabetes after transplantation in kidney transplant patients medicated with tacrolimus
[PMID 16733889] [Association analysis of 30 type 2 diabetes candidate genes in Chinese Han population].
[PMID 17786212] Heterogeneity in meta-analyses of genome-wide association investigations.
[PMID 18426861] Association analysis of type 2 diabetes Loci in type 1 diabetes.
[PMID 18533027] Worldwide population differentiation at disease-associated SNPs.
[PMID 18591388] Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.
[PMID 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.
[PMID 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.
[PMID 19526209] Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?
[PMID 19931040] Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.
[PMID 20017978] Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.
[PMID 20018041] The effect of multiple genetic variants in predicting the risk of type 2 diabetes.
[PMID 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.
[PMID 20144327] A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.
[PMID 20550665] Association study of genetic variants in eight genes/loci with type 2 diabetes in a Han Chinese population.
[PMID 21573802] Association between KCNJ11 gene polymorphisms and risk of type 2 diabetes mellitus in East Asian populations: a meta-analysis in 42,573 individuals.
[PMID 22377712] Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.
[PMID 22438186] A SNP in G6PC2 predicts insulin secretion in type 1 diabetes
[PMID 25247988] Population Specific Impact of Genetic Variants in KCNJ11 Gene to Type 2 Diabetes: A Case-Control and Meta-Analysis Study
| GWAS snp | |
|---|---|
| PMID | [PMID 24509480]
|
| Trait | Type 2 diabetes |
| Title | Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. |
| Risk Allele | C |
| P-val | 3E-11 |
| Odds Ratio | 1.08 [1.04-1.12] |
| ClinVar | |
|---|---|
| Risk | rs5215(T;T) |
| Alt | rs5215(T;T) |
| Reference | Rs5215(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Transient Neonatal Diabetes Hyperinsulinism Maturity-onset diabetes of the young |
| Variation | info |
| Gene | KCNJ11 |
| CLNDBN | not specified Transient Neonatal Diabetes, Dominant Hyperinsulinism, Dominant/Recessive Maturity-onset diabetes of the young |
| Reversed | 0 |
| HGVS | NC_000011.9:g.17408630C>T |
| CLNSRC | ClinVar University of Chicago |
| CLNACC | RCV000146099.2, RCV000262909.1, RCV000315713.1, RCV000357357.1, |
[PMID 25755232] Habitual coffee intake, genetic polymorphisms, and type 2 diabetes
