DisGeNET - a database of gene-disease associations

List of associated variants

Familial Mediterranean Fever, C0031069

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
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
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
rs731236	VDR	0.542	0.760	12	47844974	synonymous variant	A/G	snv	0.33	0.34	81
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
rs7975232	VDR	0.576	0.760	12	47845054	intron variant	C/A	snv	0.51	0.55	56
rs3743930	MEFV	0.611	0.720	16	3254626	missense variant	C/G;T	snv	7.1E-02		43
rs763110	FASLG	0.653	0.560	1	172658358	upstream gene variant	C/T	snv		0.49	30
rs10735810	VDR	0.662	0.640	12	47879112	start lost	A/C;G;T	snv			26
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
rs28940578	MEFV	0.716	0.400	16	3243405	missense variant	C/T	snv	1.4E-04	6.3E-05	16
rs995922697	GPX1	0.724	0.560	3	49357413	missense variant	A/G	snv	4.1E-06		15
rs224222	MEFV	0.724	0.440	16	3254463	missense variant	C/T	snv	0.24	0.21	15
rs2234663	IL1RN	0.716	0.480	2	113130529	intron variant	ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC	delins			14
rs28940579	MEFV	0.732	0.440	16	3243310	missense variant	A/G;T	snv	2.2E-03; 4.0E-06		13
rs1289543302	ABCB1	0.763	0.440	7	87536472	missense variant	C/T	snv			12
rs79071878	LOC105379176 ; IL4	0.827	0.240	5	132680652	intron variant	ATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGACGATGGTGGCGTGGACAGAATGAAGCAAGATGGCCTGTTGGGAGGCTACCACAGTAAACCAGGCTAGAGATGATGGTGGCGTGGACAGAAT/-	del			7
rs104895105	MEFV	0.851	0.120	16	3247171	missense variant	G/A	snv			7
rs11466018	MEFV	0.827	0.200	16	3254739	missense variant	A/G	snv	6.6E-03	2.2E-03	7