DisGeNET - a database of gene-disease associations

List of associated variants

Cardiac valvular dysplasia, X-linked, C0262436

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
rs1048661	LOXL1-AS1 ; LOXL1	0.732	0.320	15	73927205	missense variant	G/T	snv	0.33	0.28	14
rs267606815	FLNA	0.925	0.200	X	154364638	missense variant	G/A;T	snv	5.5E-06		2
rs267606816	FLNA	0.925	0.200	X	154367403	missense variant	C/T	snv			2
rs267606817	FLNA	0.925	0.200	X	154364263	missense variant	A/T	snv			2