rs193922401, ABCC8

N. diseases: 1
Disease: Neonatal diabetes mellitus ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neonatal diabetes mellitus
CUI: C0158981
Disease: Neonatal diabetes mellitus
0.710 GeneticVariation BEFREE Here we investigate the molecular mechanism by which two heterozygous mutations in the second nucleotide-binding domain (NBD2) of SUR1 (R1380L and R1380C) separately cause neonatal diabetes. 18025464 2007
Neonatal diabetes mellitus
CUI: C0158981
Disease: Neonatal diabetes mellitus
0.710 GeneticVariation CLINVAR