rs80359180, BRCA2

N. diseases: 6
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, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.827 0.280 13 32380085 stop gained C/A;G;T snv 0.700 0
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
37 0.827 0.280 13 32380085 stop gained C/A;G;T snv 0.700 0
Noninfiltrating Intraductal Carcinoma
CUI: C0007124
Disease: Noninfiltrating Intraductal Carcinoma
13 0.827 0.280 13 32380085 stop gained C/A;G;T snv 0.700 0
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.827 0.280 13 32380085 stop gained C/A;G;T snv 0.700 1.000 10 2003 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.280 13 32380085 stop gained C/A;G;T snv 0.700 1.000 10 2003 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.827 0.280 13 32380085 stop gained C/A;G;T snv 0.700 1.000 5 2003 2014