rs1085308053, PTEN

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.
Dilated ventricles (finding)
CUI: C3278923
Disease: Dilated ventricles (finding)
32 0.882 0.080 10 87952230 missense variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.080 10 87952230 missense variant C/T snv 0.700 0
Hemangioma
CUI: C0018916
Disease: Hemangioma
24 0.882 0.080 10 87952230 missense variant C/T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.882 0.080 10 87952230 missense variant C/T snv 0.700 0
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.882 0.080 10 87952230 missense variant C/T snv 0.700 0