CNTNAP1, contactin associated protein 1, 8506

N. diseases: 166; N. variants: 16
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7 ×
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: rs768554986
rs768554986 		0.925 17 42686969 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 1.000 4 2014 2017
dbSNP: rs779027563
rs779027563 		0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 1.000 1 2017 2017
dbSNP: rs1555642784
rs1555642784 		0.851 0.160 17 42688979 frameshift variant -/C delins
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 0
dbSNP: rs746361190
rs746361190 		0.882 0.120 17 42691905 missense variant C/A snv 4.0E-06
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 0
dbSNP: rs751050956
rs751050956 		1.000 17 42693445 frameshift variant CT/- del 4.9E-05
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 0
dbSNP: rs786204799
rs786204799 		1.000 17 42695534 frameshift variant -/T delins
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 0
dbSNP: rs786204800
rs786204800 		1.000 17 42695519 splice acceptor variant GATA/- delins 4.1E-06
CUI: C4225386
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 7
LETHAL CONGENITAL CONTRACTURE SYNDROME 7 		0.700 0