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
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs873601	BIVM-ERCC5 ; ERCC5	0.677	0.360	13	102875987	3 prime UTR variant	G/A	snv		0.59	25
rs7747909	IL17A	0.790	0.320	6	52189451	3 prime UTR variant	G/A	snv		0.18	7
rs763361	CD226	0.689	0.520	18	69864406	missense variant	T/A;C	snv	4.0E-06; 0.52		21
rs762623	CDKN1A ; DINOL	1.000	0.160	6	36677689	non coding transcript exon variant	G/A	snv		0.12	2
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs751402	ERCC5 ; BIVM-ERCC5	0.724	0.360	13	102845848	5 prime UTR variant	A/G	snv		0.76	15
rs727088	CD226	0.790	0.400	18	69863203	3 prime UTR variant	G/A	snv		0.47	8
rs7025417	LOC107987046 ; IL33	0.752	0.280	9	6240084	intron variant	T/C;G	snv			11
rs6920220		0.742	0.440	6	137685367	intron variant	G/A	snv		0.16	14
rs6910071	TSBP1 ; TSBP1-AS1	0.790	0.320	6	32315077	intron variant	A/G	snv		0.14	7
rs6906021	HLA-DQB1-AS1	0.827	0.320	6	32658534	upstream gene variant	T/C	snv		0.47	6
rs6822844		0.689	0.520	4	122588266	regulatory region variant	G/T	snv		0.10	20
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs6430612		1.000	0.160	2	136248628	intergenic variant	C/T	snv		0.44	1
rs560191	TP53BP1	0.763	0.280	15	43475576	missense variant	G/C;T	snv	0.36; 4.0E-06		12
rs540386	TRAF6	0.851	0.200	11	36503743	intron variant	C/G;T	snv			4
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4759314	HOTAIR	0.649	0.440	12	53968051	non coding transcript exon variant	G/A	snv		0.93	31
rs4252134	PLG	0.925	0.160	6	160732495	intron variant	T/C	snv		0.21	2
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs3918242	MMP9	0.602	0.680	20	46007337	upstream gene variant	C/T	snv		0.14	54
rs3838646	TTTY14	0.827	0.320	Y	18991182	intron variant	CA/-	del			8
rs3819024	IL17A	0.701	0.560	6	52185988	upstream gene variant	A/G	snv		0.34	17