rs80358189, BRCA1

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 0.200 17 43074522 splice acceptor variant C/A;G;T snv 1.2E-05 0.700 1.000 3 2002 2019
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.827 0.200 17 43074522 splice acceptor variant C/A;G;T snv 1.2E-05 0.700 1.000 3 2002 2015
FANCONI ANEMIA, COMPLEMENTATION GROUP S
CUI: C4554406
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S
28 0.827 0.200 17 43074522 splice acceptor variant C/A;G;T snv 1.2E-05 0.700 0
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.827 0.200 17 43074522 splice acceptor variant C/A;G;T snv 1.2E-05 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.827 0.200 17 43074522 splice acceptor variant C/A;G;T snv 1.2E-05 0.700 0
PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
CUI: C3280442
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4
22 0.827 0.200 17 43074522 splice acceptor variant C/A;G;T snv 1.2E-05 0.700 0