rs80357973, BRCA1

N. diseases: 4
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.
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.925 0.200 17 43045793 splice acceptor variant CCAATTGC/-;CCAATTGCCCAATTGC delins 0.700 1.000 13 1976 2016
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.925 0.200 17 43045793 splice acceptor variant CCAATTGC/-;CCAATTGCCCAATTGC delins 0.700 1.000 11 1996 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.200 17 43045793 splice acceptor variant CCAATTGC/-;CCAATTGCCCAATTGC delins 0.700 1.000 8 2004 2016
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.925 0.200 17 43045793 splice acceptor variant CCAATTGC/-;CCAATTGCCCAATTGC delins 0.700 0