DisGeNET - a database of gene-disease associations

List of associated variants

Familial cold urticaria, C0343068

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
rs147080557	NLRP12	0.882	0.120	19	53810777	missense variant	G/A;C	snv	3.6E-05; 4.0E-06		6
rs1187636039	EPHA3	0.925	0.120	3	89341043	missense variant	C/A	snv			5
rs121908150	NLRP3	0.851	0.080	1	247424227	stop gained	C/T	snv			5
rs121908146	NLRP3	0.851	0.120	1	247424765	missense variant	C/T	snv			4
rs587781260	NLRC4	0.882	0.080	2	32250842	missense variant	A/G	snv			3
rs606231460	NLRC4	0.882	0.080	2	32250536	missense variant	T/G	snv			3