Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs864622401
rs864622401
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		ATG 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: rs864622401
rs864622401
BRCA2
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		ATG 0.700 CausalMutation CLINVAR Spectrum of BRCA1/2 point mutations and genomic rearrangements in high-risk breast/ovarian cancer Chilean families. 20859677

2011
dbSNP: rs864622401
rs864622401
BRCA2
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		ATG 0.700 CausalMutation CLINVAR

dbSNP: rs864622401
rs864622401
BRCA2
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		ATG 0.700 CausalMutation CLINVAR

dbSNP: rs864622401
rs864622401
BRCA2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2 		ATG 0.700 CausalMutation CLINVAR