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.