DisGeNET - a database of gene-disease associations

List of associated variants

Autoinflammatory disease, C3267073

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
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs4149584	TNFRSF1A	0.683	0.440	12	6333477	missense variant	C/G;T	snv	4.0E-06; 1.3E-02		24
rs587777609	STING1	0.851	0.040	5	139480849	missense variant	T/C	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
rs180177468	NLRP3	0.925	0.080	1	247424369	missense variant	G/T	snv			2
rs397514562	PLCG2	0.925	0.040	16	81919549	missense variant	C/A	snv			2
rs1433372015	STING1	0.925	0.040	5	139480855	missense variant	T/C	snv		7.0E-06	2
rs184429527	SERPINB9 ; LOC101927730	1.000		6	2890309	missense variant	C/A;T	snv	8.7E-04; 2.4E-05		1