CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16
Disease: Arthrogryposis ×
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: rs1555642784
rs1555642784 		0.851 0.160 17 42688979 frameshift variant -/C delins
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0