rs193929343
From SNPedia
| Merged into | rs80356618 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs193929343(G;T) |
| Make rs193929343(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 17387595 |
| Gene | KCNJ11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193929343 |
| dbSNP (classic) | rs193929343 |
| ClinGen | rs193929343 |
| ebi | rs193929343 |
| HLI | rs193929343 |
| Exac | rs193929343 |
| Gnomad | rs193929343 |
| Varsome | rs193929343 |
| LitVar | rs193929343 |
| Map | rs193929343 |
| PheGenI | rs193929343 |
| Biobank | rs193929343 |
| 1000 genomes | rs193929343 |
| hgdp | rs193929343 |
| ensembl | rs193929343 |
| geneview | rs193929343 |
| scholar | rs193929343 |
| rs193929343 | |
| pharmgkb | rs193929343 |
| gwascentral | rs193929343 |
| openSNP | rs193929343 |
| 23andMe | rs193929343 |
| SNPshot | rs193929343 |
| SNPdbe | rs193929343 |
| MSV3d | rs193929343 |
| GWAS Ctlg | rs193929343 |
| Status | Merged into rs80356618 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193929343(T;T) |
| Alt | rs193929343(T;T) |
| Reference | Rs193929343(G;G) |
| Significance | Pathogenic |
| Disease | Permanent neonatal diabetes mellitus |
| Variation | info |
| Gene | |
| CLNDBN | Permanent neonatal diabetes mellitus |
| Reversed | 1 |
| HGVS | NC_000011.9:g.17409142C>A |
| CLNSRC | GeneReviews |
| CLNACC | SCV000040732.1, SCV000040732.1, |
[PMID 16416420] Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
[PMID 16670688] KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
