rs786204875, PTEN

N. diseases: 4
Source: INFERRED ×
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.
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.882 0.120 10 87960913 stop gained G/A;T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
0.882 0.120 10 87960913 stop gained G/A;T snv 0.700 0
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.882 0.120 10 87960913 stop gained G/A;T snv 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.882 0.120 10 87960913 stop gained G/A;T snv 0.700 0