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
rs1979277	SHMT1	0.620	0.560	17	18328782	missense variant	G/A	snv	0.27	0.31	45
rs3087243	CTLA4	0.623	0.720	2	203874196	downstream gene variant	G/A	snv		0.37	44
rs2274223	PLCE1	0.620	0.400	10	94306584	missense variant	A/G	snv	0.28	0.31	40
rs1799969	ICAM1	0.637	0.560	19	10284116	missense variant	G/A	snv	0.11	9.3E-02	38
rs1570360	VEGFA	0.641	0.680	6	43770093	upstream gene variant	A/G	snv		0.76	38
rs4759314	HOTAIR	0.649	0.440	12	53968051	non coding transcript exon variant	G/A	snv		0.93	31
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv			29
rs12826786		0.683	0.480	12	53961717	upstream gene variant	C/T	snv		0.38	26
rs2004640	IRF5	0.662	0.520	7	128938247	splice donor variant	T/G	snv		0.52	26
rs873601	BIVM-ERCC5 ; ERCC5	0.677	0.360	13	102875987	3 prime UTR variant	G/A	snv		0.59	25
rs2104286	IL2RA	0.662	0.440	10	6057082	intron variant	T/C	snv		0.18	25
rs2250889	SLC12A5-AS1 ; MMP9	0.667	0.520	20	46013767	missense variant	G/C;T	snv	0.88; 1.6E-05		24
rs2736340		0.683	0.480	8	11486464	upstream gene variant	C/T	snv		0.25	22
rs763361	CD226	0.689	0.520	18	69864406	missense variant	T/A;C	snv	4.0E-06; 0.52		21
rs6822844		0.689	0.520	4	122588266	regulatory region variant	G/T	snv		0.10	20
rs13277113	BLK	0.695	0.520	8	11491677	intron variant	G/A	snv		0.25	18
rs3819024	IL17A	0.701	0.560	6	52185988	upstream gene variant	A/G	snv		0.34	17
rs751402	ERCC5 ; BIVM-ERCC5	0.724	0.360	13	102845848	5 prime UTR variant	A/G	snv		0.76	15
rs6920220		0.742	0.440	6	137685367	intron variant	G/A	snv		0.16	14
rs1143679	ITGAM	0.732	0.520	16	31265490	missense variant	G/A	snv	9.7E-02	0.11	14
rs3733197	BANK1	0.742	0.320	4	101918130	missense variant	G/A	snv	0.31	0.30	13
rs2227284	IL4	0.732	0.480	5	132677033	intron variant	T/C;G	snv			12
rs2073498	RASSF1	0.763	0.280	3	50332115	missense variant	C/A	snv	9.6E-02	8.0E-02	12
rs1805034	TNFRSF11A	0.742	0.360	18	62360008	missense variant	C/T	snv	0.54	0.56	12
rs560191	TP53BP1	0.763	0.280	15	43475576	missense variant	G/C;T	snv	0.36; 4.0E-06		12