PTEN, phosphatase and tensin homolog, 5728

N. diseases: 1349; N. variants: 384
Disease: PTEN Hamartoma Tumor Syndrome ×
Source: ALL
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: rs1060500113
rs1060500113 		1.000 0.080 10 87925547 frameshift variant -/T delins
CUI: C1959582
Disease: PTEN Hamartoma Tumor Syndrome
PTEN Hamartoma Tumor Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 0