Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922401
rs193922401
ABCC8
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
dbSNP: rs193922401
rs193922401
ABCC8
A 0.710 GeneticVariation CLINVAR