rs81002899, 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 32326615 splice donor variant T/A;C;G snv 0.700 1.000 16 2000 2016
Fanconi Anemia
CUI: C0015625
Disease: Fanconi Anemia
173 0.851 0.280 13 32326615 splice donor variant T/A;C;G snv 0.700 1.000 12 2000 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.280 13 32326615 splice donor variant T/A;C;G snv 0.700 1.000 10 2000 2017
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
CUI: C2675520
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2
2633 0.851 0.280 13 32326615 splice donor variant T/A;C;G snv 0.700 1.000 6 2000 2019
FANCONI ANEMIA, COMPLEMENTATION GROUP D1
CUI: C1838457
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
37 0.851 0.280 13 32326615 splice donor variant T/A;C;G snv 0.700 0