BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 75; N. variants: 176
Disease: Primary malignant neoplasm ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1393141051
rs1393141051
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE Two BRCA1 variants, R133H and E143K, and a RACK1 variant, K280E, associated with cancer, which weakened the BRCA1-RACK1 interaction, interfered with the centrosomal localization of BRCA1 and reduced centrosome amplification induced by overexpression of RACK1. 30617304 2019
dbSNP: rs28997576
rs28997576
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C1306459
Disease:
Primary malignant neoplasm 		0.010 GeneticVariation BEFREE Nordic collaborative study of the BARD1 Cys557Ser allele in 3956 patients with cancer: enrichment in familial BRCA1/BRCA2 mutation-negative breast cancer but not in other malignancies. 16825437 2006