Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519365
rs1057519365
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		A 0.700 CausalMutation CLINVAR The Fanconi anemia DNA damage repair pathway in the spotlight for germline predisposition to colorectal cancer. 27165003

2016
dbSNP: rs1057519365
rs1057519365
BRIP1
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		A 0.700 CausalMutation CLINVAR Mutations in BRIP1 confer high risk of ovarian cancer. 21964575

2011