Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age. 11389159

2001
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR The RING heterodimer BRCA1-BARD1 is a ubiquitin ligase inactivated by a breast cancer-derived mutation. 11278247

2001
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Cancer-predisposing mutations within the RING domain of BRCA1: loss of ubiquitin protein ligase activity and protection from radiation hypersensitivity. 11320250

2001
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR BRCA1 physically and functionally interacts with ATF1. 10945975

2000
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. 10788334

2000
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR The cancer-predisposing mutation C61G disrupts homodimer formation in the NH2-terminal BRCA1 RING finger domain. 9525870

1998
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Human BRCA1 inhibits growth in yeast: potential use in diagnostic testing. 9159158

1997
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. 7795652

1995
dbSNP: rs28897672
rs28897672
BRCA1
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
Hereditary Breast and Ovarian Cancer Syndrome 		C 0.700 CausalMutation CLINVAR Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. 7894493

1994