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
dbSNP: rs80357033
rs80357033
BRCA1
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 GeneticVariation BEFREE Functional analysis of familial Asp67Glu and Thr1051Ser BRCA1 mutations in breast/ovarian carcinogenesis. 19865540

2009