Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356637

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs80356637(G;G)
Make rs80356637(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17470119
GeneABCC8
is asnp
is mentioned by
dbSNPrs80356637
ebirs80356637
HLIrs80356637
Exacrs80356637
Varsomers80356637
Maprs80356637
PheGenIrs80356637
hapmaprs80356637
1000 genomesrs80356637
hgdprs80356637
ensemblrs80356637
gopubmedrs80356637
geneviewrs80356637
scholarrs80356637
googlers80356637
pharmgkbrs80356637
gwascentralrs80356637
openSNPrs80356637
23andMers80356637
23andMe allrs80356637
SNP Nexus

SNPshotrs80356637
SNPdbers80356637
MSV3drs80356637
GWAS Ctlgrs80356637
Merged fromRs193929363
Max Magnitude0
OMIM600509
Desc
Variant0016
Relatedalso
ClinVar
Risk rs80356637(C,G;C,G)
Alt rs80356637(C,G;C,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 OMIM Allelic Variant
CLNACC RCV000020287.1, RCV000029258.2, RCV000009670.4, RCV000020286.1,


[PMID 20936] Reactivation of enzymes by light-stimulated cleavage of reduced pyridoxal 5'-phosphate-enzyme complexes.


[PMID 17668386OA-icon.png] 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.