Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs483353111
rs483353111
BRCA2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		G 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs483353111
rs483353111
BRCA2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		G 0.700 CausalMutation CLINVAR

dbSNP: rs483353111
rs483353111
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		G 0.700 CausalMutation CLINVAR