PTEN, phosphatase and tensin homolog, 5728

N. diseases: 107; N. variants: 343
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1064793345
rs1064793345
0.752 0.240 10 87961039 missense variant T/C snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
Mental Disorders 0.700 1.000 2 2012 2012
dbSNP: rs876660634
rs876660634
0.807 0.200 10 87925551 missense variant A/C;G snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
Mental Disorders 0.700 0