rs193929349
| Merged into | rs80356624 |
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs193929349(A;A) |
| Make rs193929349(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 17387490 |
| Gene | KCNJ11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193929349 |
| dbSNP (classic) | rs193929349 |
| ClinGen | rs193929349 |
| ebi | rs193929349 |
| HLI | rs193929349 |
| Exac | rs193929349 |
| Gnomad | rs193929349 |
| Varsome | rs193929349 |
| LitVar | rs193929349 |
| Map | rs193929349 |
| PheGenI | rs193929349 |
| Biobank | rs193929349 |
| 1000 genomes | rs193929349 |
| hgdp | rs193929349 |
| ensembl | rs193929349 |
| geneview | rs193929349 |
| scholar | rs193929349 |
| rs193929349 | |
| pharmgkb | rs193929349 |
| gwascentral | rs193929349 |
| openSNP | rs193929349 |
| 23andMe | rs193929349 |
| SNPshot | rs193929349 |
| SNPdbe | rs193929349 |
| MSV3d | rs193929349 |
| GWAS Ctlg | rs193929349 |
| Status | Merged into rs80356624 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193929349(A;A) |
| Alt | rs193929349(A;A) |
| Reference | Rs193929349(G;G) |
| Significance | Pathogenic |
| Disease | Permanent neonatal diabetes mellitus Transient neonatal diabetes mellitus 3 |
| Variation | info |
| Gene | |
| CLNDBN | Permanent neonatal diabetes mellitus Transient neonatal diabetes mellitus 3 |
| Reversed | 1 |
| HGVS | NC_000011.9:g.17409037C>T |
| CLNSRC | OMIM Allelic Variant GeneReviews |
| CLNACC | SCV000029415.1, SCV000029415.1, SCV000029417.1, SCV000029417.1, SCV000040738.1, SCV000040738.1, |
[PMID 16670] The effect of birth on the maturation of hepatic cytochrome(s) P-450 mono-oxygenase and tyrosine aminotransferase activities in the guinea pig.
[PMID 12524280
] Molecular basis for Kir6.2 channel inhibition by adenine nucleotides.
[PMID 15115830] Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
[PMID 15583126] Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
[PMID 16123337] Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy.
[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.
