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: rs121913294
rs121913294
0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases
Endocrine System Diseases 0.700 0