BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 75; N. variants: 176
Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587780024
rs587780024
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TCATACTTTTCTTCCTGTTCA 0.700 CausalMutation CLINVAR Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer. 25452441 2015
dbSNP: rs587780024
rs587780024
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TCATACTTTTCTTCCTGTTCA 0.700 CausalMutation CLINVAR Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families. 20077502 2010