DisGeNET - a database of gene-disease associations

List of associated variants

Lupus Erythematosus, Discoid, C0024138

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
rs1616583		0.882	0.120	X	12891363	downstream gene variant	C/G	snv		0.24	3
rs1143679	ITGAM	0.732	0.520	16	31265490	missense variant	G/A	snv	9.7E-02	0.11	14
rs12583006	TNFSF13B	0.807	0.320	13	108285104	intron variant	T/A	snv		0.21	8
rs1678542	KIF5A	0.790	0.320	12	57574932	intron variant	C/G	snv		0.42	9
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs2104286	IL2RA	0.662	0.440	10	6057082	intron variant	T/C	snv		0.18	25
rs7848647	TNFSF15	0.732	0.320	9	114806766	upstream gene variant	T/C	snv		0.74	13
rs3810936	TNFSF15	0.742	0.320	9	114790605	synonymous variant	T/C	snv	0.71	0.75	12
rs2736340		0.683	0.480	8	11486464	upstream gene variant	C/T	snv		0.25	22
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs2004640	IRF5	0.662	0.520	7	128938247	splice donor variant	T/G	snv		0.52	26
rs10488631	TNPO3	0.742	0.280	7	128954129	upstream gene variant	T/C	snv		9.0E-02	13
rs2070197	IRF5	0.827	0.280	7	128948946	3 prime UTR variant	T/C	snv		9.0E-02	6
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105
rs763780	IL17F	0.531	0.720	6	52236941	missense variant	T/C	snv	6.7E-02	6.6E-02	87
rs1800625	AGER ; PBX2	0.641	0.680	6	32184665	upstream gene variant	A/G	snv		0.15	39
rs5029939	TNFAIP3	0.701	0.440	6	137874586	intron variant	C/G	snv		0.13	19
rs2397084	IL17F	0.716	0.480	6	52237046	missense variant	T/C	snv	6.7E-02	6.1E-02	14
rs1270942	CFB ; CYP21A2	0.742	0.440	6	31951083	non coding transcript exon variant	A/G	snv		7.5E-02	11
rs3131379	MSH5 ; MSH5-SAPCD1	0.752	0.440	6	31753256	intron variant	G/A	snv	6.4E-02	7.9E-02	10
rs1341239	PRL ; CASC15	0.776	0.360	6	22303975	intron variant	A/C	snv		0.65	8
rs1150754	TNXB	0.851	0.200	6	32082981	intron variant	C/A;T	snv			4
rs121908117	ATRIP ; TREX1 ; ATRIP-TREX1	0.708	0.440	3	48466707	missense variant	G/A	snv			17
rs72556554	ATRIP ; TREX1 ; ATRIP-TREX1	0.776	0.400	3	48466996	missense variant	G/A;C	snv	2.1E-04; 2.7E-04		9
rs370504038	ATRIP-TREX1 ; ATRIP ; SHISA5 ; TREX1	0.851	0.160	3	48467569	missense variant	A/G	snv	1.2E-04	1.2E-04	4