rs1085308040, PTEN

N. diseases: 6
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.
Apraxia of Phonation
CUI: C0264611
Disease: Apraxia of Phonation
9 0.851 0.200 10 87961096 missense variant G/A;T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.200 10 87961096 missense variant G/A;T snv 0.700 0
Hemangioma
CUI: C0018916
Disease: Hemangioma
24 0.851 0.200 10 87961096 missense variant G/A;T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.851 0.200 10 87961096 missense variant G/A;T snv 0.700 0
PTEN Hamartoma Tumor Syndrome
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
194 0.851 0.200 10 87961096 missense variant G/A;T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.200 10 87961096 missense variant G/A;T snv 0.700 0