DisGeNET - a database of gene-disease associations

List of shared variants

Behcet Syndrome, C0004943

Disease: Familial Mediterranean Fever

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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		72
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
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
rs28940580	MEFV	0.742	0.560	16	3243447	missense variant	C/A;G;T	snv	1.0E-04; 8.0E-06		17
rs28940579	MEFV	0.732	0.440	16	3243310	missense variant	A/G;T	snv	2.2E-03; 4.0E-06		13
rs104895094	MEFV	0.851	0.320	16	3243403	missense variant	T/A;C	snv	8.0E-06; 5.2E-03		5
rs104895083	MEFV	0.925	0.200	16	3247166	missense variant	G/C;T	snv	4.0E-05; 1.2E-05		2