rs1085308049, PTEN

N. diseases: 3
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
0.925 0.080 10 87957885 stop gained A/T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
0.925 0.080 10 87957885 stop gained A/T snv 0.700 0
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
0.925 0.080 10 87957885 stop gained A/T snv 0.700 0