rs80356616
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80356616(A;A) |
| Make rs80356616(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 17387917 |
| Gene | KCNJ11 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356616 |
| dbSNP (classic) | rs80356616 |
| ClinGen | rs80356616 |
| ebi | rs80356616 |
| HLI | rs80356616 |
| Exac | rs80356616 |
| Gnomad | rs80356616 |
| Varsome | rs80356616 |
| LitVar | rs80356616 |
| Map | rs80356616 |
| PheGenI | rs80356616 |
| Biobank | rs80356616 |
| 1000 genomes | rs80356616 |
| hgdp | rs80356616 |
| ensembl | rs80356616 |
| geneview | rs80356616 |
| scholar | rs80356616 |
| rs80356616 | |
| pharmgkb | rs80356616 |
| gwascentral | rs80356616 |
| openSNP | rs80356616 |
| 23andMe | rs80356616 |
| SNPshot | rs80356616 |
| SNPdbe | rs80356616 |
| MSV3d | rs80356616 |
| GWAS Ctlg | rs80356616 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356616(A;A) |
| Alt | rs80356616(A;A) |
| Reference | Rs80356616(G;G) |
| Significance | Pathogenic |
| Disease | Diabetes mellitus Permanent neonatal diabetes mellitus Neonatal insulin-dependent diabetes mellitus |
| Variation | info |
| Gene | KCNJ11 |
| CLNDBN | Diabetes mellitus, permanent neonatal, with neurologic features Permanent neonatal diabetes mellitus Neonatal insulin-dependent diabetes mellitus |
| Reversed | 1 |
| HGVS | NC_000011.9:g.17409464C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009201.5, RCV000030665.4, RCV000146104.1, |
[PMID 15115830] Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
[PMID 15580558] KCNJ11 activating mutations in Italian patients with 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 16670688] KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
