Source: CLINVAR ×
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, 3
CUI: C3150659
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3
23 0.882 0.200 17 58692740 stop gained C/T snv 1.2E-05 1.4E-05 0.700 1.000 3 2015 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP O
CUI: C3150653
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O
63 0.882 0.200 17 58692740 stop gained C/T snv 1.2E-05 1.4E-05 0.700 1.000 3 2015 2016
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2106 0.882 0.200 17 58692740 stop gained C/T snv 1.2E-05 1.4E-05 0.700 1.000 1 2015 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6385 0.882 0.200 17 58692740 stop gained C/T snv 1.2E-05 1.4E-05 0.700 1.000 1 2015 2015