Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs515726117
rs515726117
0.925 0.160 16 23603658 frameshift variant C/- delins 4.0E-06
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
0.700 1.000 8 2013 2017
dbSNP: rs515726117
rs515726117
0.925 0.160 16 23603658 frameshift variant C/- delins 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.700 0
dbSNP: rs515726117
rs515726117
0.925 0.160 16 23603658 frameshift variant C/- delins 4.0E-06
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm
0.700 0