DisGeNET - a database of gene-disease associations

List of associated variants

LETHAL CONGENITAL CONTRACTURE SYNDROME 7, C4225386

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs779027563	CNTNAP1	0.677	0.360	17	42687838	missense variant	G/C	snv	4.0E-06	7.0E-06	58
rs1555642784	CNTNAP1	0.851	0.160	17	42688979	frameshift variant	-/C	delins			5
rs746361190	CNTNAP1	0.882	0.120	17	42691905	missense variant	C/A	snv	4.0E-06		4
rs768554986	CNTNAP1	0.925		17	42686969	missense variant	T/C	snv	4.0E-06	7.0E-06	2
rs751050956	CNTNAP1	1.000		17	42693445	frameshift variant	CT/-	del		4.9E-05	1
rs786204799	CNTNAP1	1.000		17	42695534	frameshift variant	-/T	delins			1
rs786204800	CNTNAP1	1.000		17	42695519	splice acceptor variant	GATA/-	delins	4.1E-06		1