rs1131691039, TP53

N. diseases: 5
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 0.851 0.240 17 7673700 splice donor variant C/A;G;T snv 0.700 0
LI-FRAUMENI SYNDROME 1
CUI: C1835398
Disease: LI-FRAUMENI SYNDROME 1
39 0.851 0.240 17 7673700 splice donor variant C/A;G;T snv 0.700 0
Malignant neoplasm of large intestine
CUI: C0346629
Disease: Malignant neoplasm of large intestine
375 0.851 0.240 17 7673700 splice donor variant C/A;G;T snv 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.240 17 7673700 splice donor variant C/A;G;T snv 0.700 0
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
757 0.851 0.240 17 7673700 splice donor variant C/A;G;T snv 0.700 0