rs1085308052, 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.
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.851 0.160 10 87952144 frameshift variant -/T delins 0.700 1.000 2 2007 2017
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.851 0.160 10 87952144 frameshift variant -/T delins 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.160 10 87952144 frameshift variant -/T delins 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.851 0.160 10 87952144 frameshift variant -/T delins 0.700 0
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
135 0.851 0.160 10 87952144 frameshift variant -/T delins 0.700 0