CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 ×
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: rs761805324
rs761805324 		1.000 17 42691457 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.800 1.000 4 2016 2018
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.800 1.000 4 2016 2018
dbSNP: rs1567969825
rs1567969825 		1.000 17 42685340 missense variant T/C snv
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.700 0
dbSNP: rs1567973088
rs1567973088 		1.000 17 42690894 stop gained C/T snv
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.700 0
dbSNP: rs756896276
rs756896276 		1.000 17 42689569 stop gained G/A;T snv 4.0E-06; 8.0E-06
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.700 0
dbSNP: rs768554986
rs768554986 		0.925 17 42686969 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.700 0
dbSNP: rs878853221
rs878853221 		1.000 17 42690752 stop gained G/A snv
CUI: C4748608
Disease: NEUROPATHY, CONGENITAL HYPOMYELINATING, 3
NEUROPATHY, CONGENITAL HYPOMYELINATING, 3 		0.700 0