Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356959
rs80356959
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. 15172985

2004
dbSNP: rs80356959
rs80356959
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Structure-based assessment of missense mutations in human BRCA1: implications for breast and ovarian cancer predisposition. 15172985

2004
dbSNP: rs80356959
rs80356959
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Solution structure, backbone dynamics, and association behavior of the C-terminal BRCT domain from the breast cancer-associated protein BRCA1. 15609993

2004
dbSNP: rs80356959
rs80356959
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		C 0.700 GeneticVariation CLINVAR Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. 14534301

2003
dbSNP: rs80356959
rs80356959
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Detection of protein folding defects caused by BRCA1-BRCT truncation and missense mutations. 14534301

2003
dbSNP: rs80356959
rs80356959
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population. 11802209

2002
dbSNP: rs80356959
rs80356959
BRCA1
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Identification of seven new BRCA1 germline mutations in Italian breast and breast/ovarian cancer families. 8968102

1996