DisGeNET - a database of gene-disease associations

List of associated variants

Cryopyrin-Associated Periodic Syndromes, C2316212

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
rs387907272	MYD88	0.572	0.520	3	38141150	stop lost	T/C	snv	5.2E-05	7.0E-06	73
rs35829419	NLRP3	0.689	0.560	1	247425556	missense variant	C/A	snv	3.9E-02	3.3E-02	23
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
rs121908153	NLRP3	0.882	0.080	1	247424356	missense variant	G/A;C	snv			4
rs151344629	NLRP3	0.851	0.200	1	247424492	missense variant	C/T	snv			4
rs1331851285	CASP1	1.000	0.080	11	105029220	missense variant	T/C	snv		1.4E-05	2
rs180177458	NLRP3	1.000	0.080	1	247425022	missense variant	G/A	snv			1
rs180177494	NLRP3	1.000	0.080	1	247424344	missense variant	A/G	snv	4.0E-06		1
rs763186819	NLRP3	1.000	0.080	1	247425349	missense variant	G/A;C	snv	4.0E-06		1