Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs748876625
rs748876625
BRCA1
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation BEFREE 5382insC frameshift mutation accounted for 67% and 300T>G missense mutation for 33% of all identified familial mutations. 14986830

2003