DisGeNET - a database of gene-disease associations

List of associated variants

Cryopyrin-Associated Periodic Syndromes, C2316212

Source: CLINVAR ×

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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
rs28937896	NLRP3	0.807	0.120	1	247424507	missense variant	T/C	snv			6
rs121908153	NLRP3	0.882	0.080	1	247424356	missense variant	G/A;C	snv			3
rs121908146	NLRP3	0.851	0.120	1	247424765	missense variant	C/T	snv			2
rs121908150	NLRP3	0.851	0.080	1	247424227	stop gained	C/T	snv			2
rs151344629	NLRP3	0.851	0.200	1	247424492	missense variant	C/T	snv			2
rs121908147	NLRP3	0.807	0.280	1	247424041	missense variant	G/A;C	snv	8.3E-03; 4.0E-06		1
rs180177458	NLRP3	1.000	0.080	1	247425022	missense variant	G/A	snv			1