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
rs4759314	HOTAIR	0.649	0.440	12	53968051	non coding transcript exon variant	G/A	snv		0.93	31
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs1883832	CD40	0.581	0.680	20	46118343	5 prime UTR variant	T/C	snv	0.75	0.80	52
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs1570360	VEGFA	0.641	0.680	6	43770093	upstream gene variant	A/G	snv		0.76	38
rs751402	ERCC5 ; BIVM-ERCC5	0.724	0.360	13	102845848	5 prime UTR variant	A/G	snv		0.76	15
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs2010963	VEGFA	0.542	0.840	6	43770613	5 prime UTR variant	C/G	snv		0.68	82
rs3790567	IL12RB2	0.851	0.240	1	67356694	intron variant	A/G	snv		0.61	4
rs873601	BIVM-ERCC5 ; ERCC5	0.677	0.360	13	102875987	3 prime UTR variant	G/A	snv		0.59	25
rs1805034	TNFRSF11A	0.742	0.360	18	62360008	missense variant	C/T	snv	0.54	0.56	12
rs2004640	IRF5	0.662	0.520	7	128938247	splice donor variant	T/G	snv		0.52	26
rs2548861	WWOX	1.000	0.160	16	78624496	intron variant	T/G	snv		0.52	1
rs10818488	C5-OT1	0.776	0.360	9	120942809	regulatory region variant	A/G	snv		0.51	8
rs10783618	HOXC11 ; HOTAIR	1.000	0.160	12	53971491	intron variant	T/C	snv		0.51	1
rs727088	CD226	0.790	0.400	18	69863203	3 prime UTR variant	G/A	snv		0.47	8
rs6906021	HLA-DQB1-AS1	0.827	0.320	6	32658534	upstream gene variant	T/C	snv		0.47	6
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs6430612		1.000	0.160	2	136248628	intergenic variant	C/T	snv		0.44	1
rs1343151	IL23R	0.752	0.400	1	67253446	intron variant	G/A	snv		0.41	10
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs12826786		0.683	0.480	12	53961717	upstream gene variant	C/T	snv		0.38	26
rs3087243	CTLA4	0.623	0.720	2	203874196	downstream gene variant	G/A	snv		0.37	44
rs17576	MMP9	0.557	0.760	20	46011586	missense variant	A/G	snv	0.39	0.36	73