rs762518389, 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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.080 10 87894089 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 8 2003 2015
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.925 0.080 10 87894089 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 6 2003 2015
Hamartoma Syndrome, Multiple
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
139 0.925 0.080 10 87894089 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2003 2003