DisGeNET - a database of gene-disease associations

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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	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		4
rs151344629	NLRP3	0.851	0.200	1	247424492	missense variant	C/T	snv		4
rs180177468	NLRP3	0.925	0.080	1	247424369	missense variant	G/T	snv		2
rs121908152	NLRP3	1.000	0.080	1	247425167	missense variant	T/C	snv		1
rs121908154	NLRP3	1.000	0.080	1	247424375	missense variant	T/C	snv		1
rs180177432	NLRP3	1.000	0.080	1	247424365	missense variant	C/A;G	snv		1
rs180177433	NLRP3	1.000	0.080	1	247424756	missense variant	C/A;T	snv		1
rs180177434	NLRP3	1.000	0.080	1	247424522	missense variant	A/G	snv		1
rs180177435	NLRP3	1.000	0.080	1	247425434	missense variant	T/C	snv		1
rs180177436	NLRP3	1.000	0.080	1	247424240	missense variant	T/A;G	snv		1
rs180177438	NLRP3	1.000	0.080	1	247425158	missense variant	A/G;T	snv		1
rs180177439	NLRP3	1.000	0.080	1	247425018	missense variant	C/A;G;T	snv	8.0E-06	1
rs180177442	NLRP3	1.000	0.080	1	247424228	missense variant	G/C;T	snv		1
rs180177444	NLRP3	1.000	0.080	1	247424511	missense variant	G/T	snv		1
rs180177445	NLRP3	1.000	0.080	1	247424662	missense variant	A/C	snv		1
rs180177446	NLRP3	1.000	0.080	1	247425345	missense variant	G/T	snv		1
rs180177447	NLRP3	1.000	0.080	1	247424357	missense variant	A/G	snv		1
rs180177449	NLRP3	1.000	0.080	1	247423964	missense variant	T/C	snv		1
rs180177451	NLRP3	1.000	0.080	1	247424442	missense variant	C/A	snv		1
rs180177452	NLRP3	1.000	0.080	1	247436053	missense variant	A/C;G	snv		1
rs200758008	NLRP3	1.000	0.080	1	247425180	missense variant	C/G	snv		1