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: rs121909219
rs121909219
0.689 0.400 10 87957915 stop gained C/A;T snv
CUI: C0349604
Disease: Intracranial Meningioma
Intracranial Meningioma
Neoplasms; Nervous System Diseases 0.700 0