AKT1, AKT serine/threonine kinase 1, 207

N. diseases: 1250; N. variants: 33
Disease: Proteus 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: rs121434592
rs121434592 		0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06
CUI: C0085261
Disease: Proteus Syndrome
Proteus Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.730 1.000 4 2008 2019