TBCK, TBC1 domain containing kinase, 93627

N. diseases: 85; N. variants: 11
Disease: Floppy infant 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: rs575822089
rs575822089 		0.882 0.120 4 106262103 stop gained G/A snv 7.7E-05 2.2E-04
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018