Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555574739
rs1555574739
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		CA 0.700 CausalMutation CLINVAR Functional variant analyses (FVAs) predict pathogenicity in the BRCA1 DNA double-strand break repair pathway. 25652403

2015
dbSNP: rs1555574739
rs1555574739
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		CA 0.700 CausalMutation CLINVAR Structural basis of phosphopeptide recognition by the BRCT domain of BRCA1. 15133503

2004
dbSNP: rs1555574739
rs1555574739
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		CA 0.700 CausalMutation CLINVAR The BRCT domain is a phospho-protein binding domain. 14576433

2003
dbSNP: rs1555574739
rs1555574739
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		CA 0.700 CausalMutation CLINVAR Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1. 11573086

2001
dbSNP: rs1555574739
rs1555574739
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		CA 0.700 GeneticVariation CLINVAR