Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs748876625
rs748876625
BRCA1
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.740 0.958 24 1994 2017
dbSNP: rs748876625
rs748876625
BRCA1
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		0.700 0
dbSNP: rs748876625
rs748876625
BRCA1
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.040 0.750 4 2003 2013
dbSNP: rs748876625
rs748876625
BRCA1
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		0.020 1.000 2 2003 2012
dbSNP: rs748876625
rs748876625
BRCA1
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 0.500 2 2003 2005
dbSNP: rs748876625
rs748876625
BRCA1
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		0.020 1.000 2 2003 2012
dbSNP: rs748876625
rs748876625
BRCA1
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2000 2005
dbSNP: rs748876625
rs748876625
BRCA1
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 1.000 2 2003 2012
dbSNP: rs748876625
rs748876625
BRCA1
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2000 2005
dbSNP: rs748876625
rs748876625
BRCA1
0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2003 2003