CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16
Disease: Cerebellar atrophy ×
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: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 1.000 1 2017 2017
dbSNP: rs1555642784
rs1555642784 		0.851 0.160 17 42688979 frameshift variant -/C delins
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0