DisGeNET - a database of gene-disease associations

List of associated variants

VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding), C1847835

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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
rs11940117	CLNK	0.925	0.040	4	10725083	intergenic variant	C/G;T	snv			2
rs4946936	FOXO3	0.790	0.160	6	108682118	3 prime UTR variant	T/A;C	snv			8
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs2234663	IL1RN	0.716	0.480	2	113130529	intron variant	ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC/-;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC;ATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGCATCCTGGGGAAAGTGAGGGAAATATGGACATCACATGGAACAACATCCAGGAGACTCAGGCCTCTAGGAGTAACTGGGTAGTGTGC	delins			14
rs4353229	CASP7	0.807	0.160	10	113729830	3 prime UTR variant	T/C	snv		0.23	6
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs638893		0.882	0.080	11	118827828	intergenic variant	G/A	snv		0.79	4
rs523604	CXCR5	0.882	0.120	11	118885029	intron variant	A/G	snv		0.53	3
rs613791	CXCR5	0.925	0.040	11	118893342	intron variant	C/T	snv		0.34	2
rs59374417		0.925	0.040	3	119569567	intergenic variant	A/C;T	snv			2
rs2243250	IL4	0.570	0.760	5	132673462	upstream gene variant	C/T	snv		0.35	61
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs11575993	SOD2	0.925	0.040	6	159688219	missense variant	G/A	snv			2
rs1141718	SOD2	0.724	0.280	6	159688224	missense variant	A/G	snv			15
rs953038635	SOD2	0.590	0.800	6	159692720	missense variant	G/A;T	snv	8.0E-06		51
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs13208776	SMOC2	0.882	0.040	6	168540944	intron variant	G/A;C	snv			3
rs10249788	LOC101927609 ; AHR	0.827	0.160	7	17298523	intron variant	C/G;T	snv			6
rs2066853	AHR	0.653	0.600	7	17339486	missense variant	G/A	snv	0.15	0.22	34
rs35652124	NFE2L2	0.790	0.320	2	177265345	intron variant	T/C	snv		0.29	8