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.
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4
CUI: C3280345
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4
47 0.882 0.200 17 35103501 missense variant G/A;C snv 2.8E-05 2.1E-05 0.700 1.000 8 2006 2017
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.882 0.200 17 35103501 missense variant G/A;C snv 2.8E-05 2.1E-05 0.700 1.000 6 2011 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 17 35103501 missense variant G/A;C snv 2.8E-05 2.1E-05 0.700 1.000 5 2006 2017
High grade serous carcinoma
CUI: C3839280
Disease: High grade serous carcinoma
1 0.882 0.200 17 35103501 missense variant G/A;C snv 2.8E-05 2.1E-05 0.010 1.000 1 2017 2017
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.882 0.200 17 35103501 missense variant G/A;C snv 2.8E-05 2.1E-05 0.010 1.000 1 2017 2017
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.882 0.200 17 35103501 missense variant G/A;C snv 2.8E-05 2.1E-05 0.010 1.000 1 2017 2017