DisGeNET - a database of gene-disease associations

List of associated variants

Familial Cold Autoinflammatory Syndrome 1, C4551895

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
rs121908147	NLRP3	0.807	0.280	1	247424041	missense variant	G/A;C	snv	8.3E-03; 4.0E-06		7
rs28937896	NLRP3	0.807	0.120	1	247424507	missense variant	T/C	snv			6
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
rs180177431	NLRP3	0.925	0.080	1	247424363	missense variant	T/C	snv			2
rs121908148	NLRP3	1.000	0.080	1	247425329	missense variant	A/G	snv			1
rs145268073	NLRP3	1.000	0.080	1	247424912	missense variant	G/A;C	snv	6.4E-04; 4.0E-06		1
rs180177478	NLRP3	1.000	0.080	1	247425017	missense variant	T/G	snv			1