rs1060502333, 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.
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
CUI: C2676676
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
2277 0.882 0.200 17 43093322 frameshift variant T/- delins 0.700 0
Hereditary Breast and Ovarian Cancer Syndrome
CUI: C0677776
Disease: Hereditary Breast and Ovarian Cancer Syndrome
2117 0.882 0.200 17 43093322 frameshift variant T/- delins 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.882 0.200 17 43093322 frameshift variant T/- delins 0.700 0