Disease: Congenital Hyperinsulinism ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs769279368
rs769279368
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8
CUI: C3888018
Disease:
Congenital Hyperinsulinism 		0.010 GeneticVariation BEFREE Previous studies reported that coexpression of the PHHI mutant R1394H-SUR1 with Kir6.2 in COS cells produces no functional channels. 11457841 2001