DisGeNET - a database of gene-disease associations

List of associated variants

Giant Cell Arteritis, C0039483

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
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs6906021	HLA-DQB1-AS1	0.827	0.320	6	32658534	upstream gene variant	T/C	snv		0.47	6
rs4759314	HOTAIR	0.649	0.440	12	53968051	non coding transcript exon variant	G/A	snv		0.93	31
rs10783618	HOXC11 ; HOTAIR	1.000	0.160	12	53971491	intron variant	T/C	snv		0.51	1
rs1799969	ICAM1	0.637	0.560	19	10284116	missense variant	G/A	snv	0.11	9.3E-02	38
rs3790567	IL12RB2	0.851	0.240	1	67356694	intron variant	A/G	snv		0.61	4
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105
rs3819024	IL17A	0.701	0.560	6	52185988	upstream gene variant	A/G	snv		0.34	17
rs7747909	IL17A	0.790	0.320	6	52189451	3 prime UTR variant	G/A	snv		0.18	7
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs1343151	IL23R	0.752	0.400	1	67253446	intron variant	G/A	snv		0.41	10
rs2104286	IL2RA	0.662	0.440	10	6057082	intron variant	T/C	snv		0.18	25
rs2227284	IL4	0.732	0.480	5	132677033	intron variant	T/C;G	snv			12
rs1059702	IRAK1	0.807	0.280	X	154018741	missense variant	A/G	snv	0.72		7
rs2004640	IRF5	0.662	0.520	7	128938247	splice donor variant	T/G	snv		0.52	26
rs1143679	ITGAM	0.732	0.520	16	31265490	missense variant	G/A	snv	9.7E-02	0.11	14
rs7025417	LOC107987046 ; IL33	0.752	0.280	9	6240084	intron variant	T/C;G	snv			11
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs17435	MECP2	0.851	0.200	X	154046529	intron variant	T/A;C	snv			4
rs17576	MMP9	0.557	0.760	20	46011586	missense variant	A/G	snv	0.39	0.36	73
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv		0.14	54
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306