DisGeNET - a database of gene-disease associations

List of associated variants

Lupus Erythematosus, C0409974

Source: ALL

Results per page

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
rs1518111	IL19 ; IL10	0.790	0.360	1	206771300	intron variant	T/C	snv		0.71	9
rs2104286	IL2RA	0.662	0.440	10	6057082	intron variant	T/C	snv		0.18	25
rs2004640	IRF5	0.662	0.520	7	128938247	splice donor variant	T/G	snv		0.52	26
rs2070197	IRF5	0.827	0.280	7	128948946	3 prime UTR variant	T/C	snv		9.0E-02	6
rs1143679	ITGAM	0.732	0.520	16	31265490	missense variant	G/A	snv	9.7E-02	0.11	14
rs1678542	KIF5A	0.790	0.320	12	57574932	intron variant	C/G	snv		0.42	9
rs3131379	MSH5 ; MSH5-SAPCD1	0.752	0.440	6	31753256	intron variant	G/A	snv	6.4E-02	7.9E-02	10
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1341239	PRL ; CASC15	0.776	0.360	6	22303975	intron variant	A/C	snv		0.65	8
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs11889341	STAT4	0.732	0.480	2	191079016	intron variant	C/T	snv		0.21	12
rs5029939	TNFAIP3	0.701	0.440	6	137874586	intron variant	C/G	snv		0.13	19
rs12583006	TNFSF13B	0.807	0.320	13	108285104	intron variant	T/A	snv		0.21	8
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
rs2205960	TNFSF4	0.763	0.400	1	173222336	intergenic variant	G/A;T	snv			9
rs10489265	TNFSF4 ; LOC100506023	0.827	0.200	1	173266926	regulatory region variant	A/C	snv		0.21	5
rs10488631	TNPO3	0.742	0.280	7	128954129	upstream gene variant	T/C	snv		9.0E-02	13