rs80357770, BRCA1

N. diseases: 3
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 0.925 0.200 17 43094141 frameshift variant TTTT/CTTTC;NNNNN;TTT;TTTTT delins 0.700 1.000 3 2002 2011
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.200 17 43094141 frameshift variant TTTT/CTTTC;NNNNN;TTT;TTTTT delins 0.700 1.000 1 2002 2002
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.925 0.200 17 43094141 frameshift variant TTTT/CTTTC;NNNNN;TTT;TTTTT delins 0.700 0