CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16
Disease: Congenital muscular dystrophy (disorder) ×
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: rs746361190
rs746361190 		0.882 0.120 17 42691905 missense variant C/A snv 4.0E-06
CUI: C0699743
Disease: Congenital muscular dystrophy (disorder)
Congenital muscular dystrophy (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0