rs11575997, TP53

N. diseases: 2
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.
Li-Fraumeni Syndrome
CUI: C0085390
Disease: Li-Fraumeni Syndrome
206 0.925 0.200 17 7673534 splice donor variant C/A;G;T snv 0.700 1.000 3 2000 2016
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.925 0.200 17 7673534 splice donor variant C/A;G;T snv 0.700 0