Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357006
rs80357006
BRCA1
T 0.700 CausalMutation CLINVAR The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. 24916970

2015
dbSNP: rs80357006
rs80357006
BRCA1
C 0.700 CausalMutation CLINVAR The role of targeted BRCA1/BRCA2 mutation analysis in hereditary breast/ovarian cancer families of Portuguese ancestry. 24916970

2015
dbSNP: rs80357006
rs80357006
BRCA1
C 0.700 CausalMutation CLINVAR Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. 24884479

2014
dbSNP: rs80357006
rs80357006
BRCA1
T 0.700 CausalMutation CLINVAR Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. 24884479

2014
dbSNP: rs80357006
rs80357006
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: rs80357006
rs80357006
BRCA1
T 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: rs80357006
rs80357006
BRCA1
C 0.700 CausalMutation CLINVAR "BRCA1/2 mutations appear embryo-lethal unless rescued by low (CGG n<26) FMR1 sub-genotypes: explanation for the ""BRCA paradox""?" 22984553

2012
dbSNP: rs80357006
rs80357006
BRCA1
C 0.700 CausalMutation CLINVAR Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2. 22460208

2010
dbSNP: rs80357006
rs80357006
BRCA1
T 0.700 CausalMutation CLINVAR Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2. 22460208

2010
dbSNP: rs80357006
rs80357006
BRCA1
C 0.700 CausalMutation CLINVAR Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain. 11857748

2002
dbSNP: rs80357006
rs80357006
BRCA1
T 0.700 CausalMutation CLINVAR Low frequency of recurrent BRCA1 and BRCA2 mutations in Spain. 11857748

2002
dbSNP: rs80357006
rs80357006
BRCA1
C 0.700 CausalMutation CLINVAR BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics. 9663595

1998
dbSNP: rs80357006
rs80357006
BRCA1
T 0.700 CausalMutation CLINVAR BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics. 9663595

1998