rs80356611
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80356611(C;C) |
| Make rs80356611(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 17387943 |
| Gene | KCNJ11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356611 |
| dbSNP (classic) | rs80356611 |
| ClinGen | rs80356611 |
| ebi | rs80356611 |
| HLI | rs80356611 |
| Exac | rs80356611 |
| Gnomad | rs80356611 |
| Varsome | rs80356611 |
| LitVar | rs80356611 |
| Map | rs80356611 |
| PheGenI | rs80356611 |
| Biobank | rs80356611 |
| 1000 genomes | rs80356611 |
| hgdp | rs80356611 |
| ensembl | rs80356611 |
| geneview | rs80356611 |
| scholar | rs80356611 |
| rs80356611 | |
| pharmgkb | rs80356611 |
| gwascentral | rs80356611 |
| openSNP | rs80356611 |
| 23andMe | rs80356611 |
| SNPshot | rs80356611 |
| SNPdbe | rs80356611 |
| MSV3d | rs80356611 |
| GWAS Ctlg | rs80356611 |
| Merged from | Rs193929336 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356611(A;A) rs80356611(C;C) |
| Alt | rs80356611(A;A) rs80356611(C;C) |
| Reference | Rs80356611(G;G) |
| Significance | Pathogenic |
| Disease | Permanent neonatal diabetes mellitus Neonatal diabetes mellitus |
| Variation | info |
| Gene | KCNJ11 |
| CLNDBN | Permanent neonatal diabetes mellitus Neonatal diabetes mellitus |
| Reversed | 1 |
| HGVS | NC_000011.9:g.17409490C>G; NC_000011.9:g.17409490C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009205.5, RCV000030103.1, |
[PMID 16636
] Rapid formation of carcinogenic N-nitrosamines in aqueous alkaline solutions.
[PMID 15561897] Toward linking structure with function in ATP-sensitive K+ channels.
[PMID 16731833] Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.
[PMID 16885550] Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.
[PMID 17635943] Molecular basis of neonatal diabetes in Japanese patients.
[PMID 18767144] Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
[PMID 15580558] KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.
