rs748876625, BRCA1

N. diseases: 10
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.740 0.958 24 1994 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.700 0
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.040 0.750 4 2003 2013
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
327 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.020 1.000 2 2003 2012
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
315 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.020 1.000 2 2003 2012
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.020 1.000 2 2000 2005
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.020 0.500 2 2003 2005
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.020 1.000 2 2003 2012
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.020 1.000 2 2000 2005
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.807 0.160 17 43104122 missense variant C/A;G snv 1.2E-05 0.010 1.000 1 2003 2003