rs80357569, 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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.200 17 43094515 frameshift variant T/-;TT delins 0.700 1.000 12 1994 2017
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.882 0.200 17 43094515 frameshift variant T/-;TT delins 0.700 1.000 5 1999 2013
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.882 0.200 17 43094515 frameshift variant T/-;TT delins 0.700 1.000 3 1994 2016
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.882 0.200 17 43094515 frameshift variant T/-;TT delins 0.700 0