DisGeNET - a database of gene-disease associations

List of associated variants

TNF receptor-associated periodic fever syndrome (TRAPS), C1275126

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
rs3743930	MEFV	0.611	0.720	16	3254626	missense variant	C/G;T	snv	7.1E-02		43
rs4149584	TNFRSF1A	0.683	0.440	12	6333477	missense variant	C/G;T	snv	4.0E-06; 1.3E-02		24
rs104895271	TNFRSF1A	0.851	0.240	12	6334161	missense variant	A/C;G	snv	1.6E-04; 4.8E-05		6
rs104895218	TNFRSF1A	0.827	0.240	12	6334099	missense variant	C/T	snv			5
rs104895219	TNFRSF1A	0.827	0.240	12	6333823	missense variant	G/A;T	snv			5
rs104895223	TNFRSF1A	0.882	0.240	12	6334108	missense variant	C/A;G;T	snv	4.0E-06		4
rs4149637	TNFRSF1A	0.851	0.320	12	6333835	missense variant	G/A;C	snv	5.7E-03		4
rs34751757	TNFRSF1A	0.882	0.160	12	6333790	missense variant	G/A;T	snv	1.0E-04		3
rs774347347	ARHGEF7	0.925	0.200	13	111244264	missense variant	T/C	snv	4.0E-06		2
rs779189628	CASP8	0.925	0.120	2	201284885	missense variant	A/G	snv	4.0E-06		2
rs772829518	CD40	0.925	0.200	20	46122699	missense variant	T/C	snv	4.0E-06		2
rs1241312324	NFKB1	0.925	0.200	4	102567083	missense variant	T/C	snv	4.0E-06		2
rs104895221	TNFRSF1A	0.925	0.200	12	6333490	missense variant	A/G	snv			2
rs104895228	TNFRSF1A	0.925	0.120	12	6333764	missense variant	A/C;G;T	snv			2
rs104895252	TNFRSF1A	0.925	0.120	12	6333844	splice donor variant	C/G;T	snv			2
rs373821605	CXCL8	1.000	0.120	4	73741652	missense variant	C/T	snv		2.1E-05	1
rs1455950524	DNAH8	1.000	0.120	6	38815492	missense variant	A/G	snv			1
rs770199823	GORASP1	1.000	0.120	3	39100811	missense variant	A/C;G	snv	2.0E-05; 4.0E-06		1
rs779944761	RELA-DT ; RELA	1.000	0.120	11	65661817	missense variant	G/A	snv	4.0E-06	7.0E-06	1
rs151125290	RELA ; RELA-DT	1.000	0.120	11	65661805	missense variant	G/A	snv	1.6E-05	7.0E-06	1
rs2770144	TLR4	1.000	0.120	9	117713057	missense variant	T/G	snv			1
rs104895217	TNFRSF1A	1.000	0.120	12	6334109	missense variant	A/G	snv			1
rs104895220	TNFRSF1A	1.000	0.120	12	6333817	missense variant	C/A;T	snv			1
rs104895222	TNFRSF1A	1.000	0.120	12	6333489	missense variant	C/T	snv			1
rs104895225	TNFRSF1A	1.000	0.120	12	6334100	missense variant	A/C	snv			1