BARD1, BRCA1 associated RING domain 1, 580

N. diseases: 75; N. variants: 176
Disease: ovarian neoplasm ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1559423185
rs1559423185
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0919267
Disease:
ovarian neoplasm 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs28997576
rs28997576
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0919267
Disease:
ovarian neoplasm 		0.020 GeneticVariation BEFREE Conformation-sensitive gel electrophoresis, minisequencing, TaqMan assays, denaturing high-performance liquid chromatography analysis and DNA sequencing were used to investigate the prevalence of the Cys557Ser allele in a large Nordic case-control study cohort consisting of 2906 patients with breast or ovarian cancer, 734 with prostate cancer, 188 with colorectal cancer, 128 men with breast cancer, and 3591 controls from Finland, Iceland, Denmark, Sweden and Norway. 16825437 2006
dbSNP: rs28997576
rs28997576
Entrez Id: 580
Gene Symbol: BARD1
BARD1
CUI: C0919267
Disease:
ovarian neoplasm 		0.020 GeneticVariation BEFREE A variant of uncertain consequence, G1743C (C557S), was found to be homozygous or hemizygous in an ovarian tumour. 16061562 2005