rs276174859, BRCA2

N. diseases: 5
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.
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.851 0.280 13 32339964 stop gained TC/AG mnv 0.700 1.000 5 2002 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.280 13 32339964 stop gained TC/AG mnv 0.700 1.000 4 2002 2014
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.851 0.280 13 32339964 stop gained TC/AG mnv 0.700 1.000 3 2002 2014
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
37 0.851 0.280 13 32339964 stop gained TC/AG mnv 0.700 0
TUMOR PREDISPOSITION SYNDROME
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
62 0.851 0.280 13 32339964 stop gained TC/AG mnv 0.700 0