Gene: BRCA1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357123
rs80357123
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs80357167
rs80357167
BRCA1
A 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs80357243
rs80357243
BRCA1
C 0.700 GeneticVariation CLINVAR Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays. 20516115

2010
dbSNP: rs80357243
rs80357243
BRCA1
C 0.700 GeneticVariation CLINVAR Does familial breast cancer and thymoma suggest a cancer syndrome? A family perspective. 26344711

2015
dbSNP: rs80357287
rs80357287
BRCA1 ; NBR2
C 0.700 CausalMutation CLINVAR

dbSNP: rs80357303
rs80357303
BRCA1
A 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs80357310
rs80357310
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs80357382
rs80357382
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs80357481
rs80357481
BRCA1
C 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs80357498
rs80357498
BRCA1
T 0.700 CausalMutation CLINVAR Functional differences among BRCA1 missense mutations in the control of centrosome duplication. 21725363

2012
dbSNP: rs80357522
rs80357522
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs80357580
rs80357580
BRCA1
A 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs80357701
rs80357701
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs80357706
rs80357706
BRCA1
T 0.700 CausalMutation CLINVAR

dbSNP: rs80357714
rs80357714
BRCA1
AT 0.700 CausalMutation CLINVAR

dbSNP: rs80357718
rs80357718
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs80357724
rs80357724
BRCA1
G 0.700 CausalMutation CLINVAR

dbSNP: rs80357760
rs80357760
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs80357772
rs80357772
BRCA1
C 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs80357772
rs80357772
BRCA1
C 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs80357783
rs80357783
BRCA1 ; NBR2
CT 0.700 CausalMutation CLINVAR Prevalence and Prognostic Role of BRCA1/2 Variants in Unselected Chinese Breast Cancer Patients. 27257965

2016
dbSNP: rs80357787
rs80357787
BRCA1
A 0.700 CausalMutation CLINVAR Nonsense-mediated mRNA decay: terminating erroneous gene expression. 15145354

2004
dbSNP: rs80357888
rs80357888
BRCA1
C 0.700 CausalMutation CLINVAR

dbSNP: rs80357906
rs80357906
BRCA1
TG 0.700 CausalMutation CLINVAR

dbSNP: rs80357973
rs80357973
BRCA1
C 0.700 CausalMutation CLINVAR Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer. 22798144

2012