rs41282930
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs41282930(C;C) |
| Make rs41282930(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 17386938 |
| Gene | KCNJ11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41282930 |
| dbSNP (classic) | rs41282930 |
| ClinGen | rs41282930 |
| ebi | rs41282930 |
| HLI | rs41282930 |
| Exac | rs41282930 |
| Gnomad | rs41282930 |
| Varsome | rs41282930 |
| LitVar | rs41282930 |
| Map | rs41282930 |
| PheGenI | rs41282930 |
| Biobank | rs41282930 |
| 1000 genomes | rs41282930 |
| hgdp | rs41282930 |
| ensembl | rs41282930 |
| geneview | rs41282930 |
| scholar | rs41282930 |
| rs41282930 | |
| pharmgkb | rs41282930 |
| gwascentral | rs41282930 |
| openSNP | rs41282930 |
| 23andMe | rs41282930 |
| SNPshot | rs41282930 |
| SNPdbe | rs41282930 |
| MSV3d | rs41282930 |
| GWAS Ctlg | rs41282930 |
| Max Magnitude | 0 |
[PMID 25247988
] Population Specific Impact of Genetic Variants in KCNJ11 Gene to Type 2 Diabetes: A Case-Control and Meta-Analysis Study
| ClinVar | |
|---|---|
| Risk | rs41282930(A;A) rs41282930(C;C) |
| Alt | rs41282930(A;A) rs41282930(C;C) |
| Reference | Rs41282930(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | Neonatal diabetes mellitus not specified Transient Neonatal Diabetes Maturity-onset diabetes of the young Hyperinsulinism Monogenic diabetes |
| Variation | info |
| Gene | KCNJ11 |
| CLNDBN | Neonatal diabetes mellitus not specified Transient Neonatal Diabetes, Dominant Maturity-onset diabetes of the young Hyperinsulinism, Dominant/Recessive Monogenic diabetes |
| Reversed | 0 |
| HGVS | NC_000011.9:g.17408485G>C |
| CLNSRC | ClinVar University of Chicago LabCorp |
| CLNACC | RCV000030102.1, RCV000146102.2, RCV000284629.1, RCV000342808.1, RCV000395172.1, RCV000445546.1, |
