rs794729664, PTEN

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.
Macrocephaly
CUI: C0221355
Disease: Macrocephaly
10 0.925 0.240 10 87952170 stop gained T/A;C;G snv 0.010 1.000 1 2016 2016
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
56 0.925 0.240 10 87952170 stop gained T/A;C;G snv 0.010 1.000 1 2016 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.240 10 87952170 stop gained T/A;C;G snv 0.700 0