rs80356637
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in complete genomics |
| Make rs80356637(G;G) |
| Make rs80356637(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 17470119 |
| Gene | ABCC8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80356637 |
| dbSNP (classic) | rs80356637 |
| ClinGen | rs80356637 |
| ebi | rs80356637 |
| HLI | rs80356637 |
| Exac | rs80356637 |
| Gnomad | rs80356637 |
| Varsome | rs80356637 |
| LitVar | rs80356637 |
| Map | rs80356637 |
| PheGenI | rs80356637 |
| Biobank | rs80356637 |
| 1000 genomes | rs80356637 |
| hgdp | rs80356637 |
| ensembl | rs80356637 |
| geneview | rs80356637 |
| scholar | rs80356637 |
| rs80356637 | |
| pharmgkb | rs80356637 |
| gwascentral | rs80356637 |
| openSNP | rs80356637 |
| 23andMe | rs80356637 |
| SNPshot | rs80356637 |
| SNPdbe | rs80356637 |
| MSV3d | rs80356637 |
| GWAS Ctlg | rs80356637 |
| Merged from | Rs193929363 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80356637(C;C) rs80356637(G;G) |
| Alt | rs80356637(C;C) rs80356637(G;G) |
| Reference | Rs80356637(T;T) |
| Significance | Pathogenic |
| Disease | Permanent neonatal diabetes mellitus Neonatal diabetes mellitus Diabetes mellitus |
| Variation | info |
| Gene | ABCC8 |
| CLNDBN | Permanent neonatal diabetes mellitus Neonatal diabetes mellitus Diabetes mellitus, permanent neonatal, with neurologic features |
| Reversed | 1 |
| HGVS | NC_000011.9:g.17491666A>C; NC_000011.9:g.17491666A>G |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000020287.1, RCV000029258.2, RCV000009670.5, RCV000020286.1, |
[PMID 20936] Reactivation of enzymes by light-stimulated cleavage of reduced pyridoxal 5'-phosphate-enzyme complexes.
[PMID 17668386
] Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.
[PMID 18025408] Effective treatment with oral sulfonylureas in patients with diabetes due to sulfonylurea receptor 1 (SUR1) mutations.
[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 19021632] Mutations in the ABCC8 (SUR1 subunit of the K(ATP) channel) gene are associated with a variable clinical phenotype.
[PMID 20922570] Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
[PMID 16613899] A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.
