Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518637
rs1057518637
BRCA2
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Comprehensive analysis of BRCA1, BRCA2 and TP53 germline mutation and tumor characterization: a portrait of early-onset breast cancer in Brazil. 23469205

2013
dbSNP: rs1057518637
rs1057518637
BRCA2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057518637
rs1057518637
BRCA2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR