Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906563
rs387906563
BRCA1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GCCACATGGCT 0.700 CausalMutation CLINVAR Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 22006311

2011
dbSNP: rs387906563
rs387906563
BRCA1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GCCACATGGCT 0.700 CausalMutation CLINVAR A high prevalence of BRCA1 mutations among breast cancer patients from the Bahamas. 20838878

2011
dbSNP: rs387906563
rs387906563
BRCA1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GCCACATGGCT 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. 19241424

2009
dbSNP: rs387906563
rs387906563
BRCA1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GCCACATGGCT 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in a study of African American breast cancer patients. 15533909

2004
dbSNP: rs387906563
rs387906563
BRCA1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GCCACATGGCT 0.700 CausalMutation CLINVAR Breast cancer genetics in African Americans. 12491487

2003
dbSNP: rs387906563
rs387906563
BRCA1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GCCACATGGCT 0.700 CausalMutation CLINVAR Founder populations and their uses for breast cancer genetics. 11250694

2000
dbSNP: rs387906563
rs387906563
BRCA1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GCCACATGGCT 0.700 CausalMutation CLINVAR Evidence for a BRCA1 founder mutation in families of West African ancestry. 10417303

1999
dbSNP: rs387906563
rs387906563
BRCA1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GCCACATGGCT 0.700 CausalMutation CLINVAR BRCA1 mutations in African Americans. 10480351

1999
dbSNP: rs387906563
rs387906563
BRCA1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 		GCCACATGGCT 0.700 CausalMutation CLINVAR BRCA1 sequence variations in 160 individuals referred to a breast/ovarian family cancer clinic. Institut Curie Breast Cancer Group. 9150149

1997