Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357600
rs80357600
BRCA1
C 0.700 CausalMutation CLINVAR A multi-gene panel study in hereditary breast and ovarian cancer in Colombia. 28528518

2018
dbSNP: rs80357600
rs80357600
BRCA1
C 0.700 CausalMutation CLINVAR Prevalence and Penetrance of BRCA1 and BRCA2 Germline Mutations in Colombian Breast Cancer Patients. 28680148

2017
dbSNP: rs80357600
rs80357600
BRCA1
C 0.700 CausalMutation CLINVAR Germline Mutations in PALB2, BRCA1, and RAD51C, Which Regulate DNA Recombination Repair, in Patients With Gastric Cancer. 28024868

2017
dbSNP: rs80357600
rs80357600
BRCA1
C 0.700 CausalMutation CLINVAR Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). 23683081

2013
dbSNP: rs80357600
rs80357600
BRCA1
C 0.700 CausalMutation CLINVAR Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence. 23479189

2013
dbSNP: rs80357600
rs80357600
BRCA1
C 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutation frequency in women evaluated in a breast cancer risk evaluation clinic. 11844822

2002
dbSNP: rs80357600
rs80357600
BRCA1
C 0.700 CausalMutation CLINVAR Germline mutations in BRCA1 and BRCA2 in breast-ovarian families from a breast cancer risk evaluation clinic. 11304778

2001
dbSNP: rs80357600
rs80357600
BRCA1
C 0.700 CausalMutation CLINVAR BRCA1 mutations in women attending clinics that evaluate the risk of breast cancer. 9145677

1997
dbSNP: rs80357600
rs80357600
BRCA1
CT 0.700 CausalMutation CLINVAR