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
rs10488631	TNPO3	0.742	0.280	7	128954129	upstream gene variant	T/C	snv		9.0E-02	13
rs10489265	TNFSF4 ; LOC100506023	0.827	0.200	1	173266926	regulatory region variant	A/C	snv		0.21	5
rs1048971	CR2	0.851	0.160	1	207472977	synonymous variant	G/A;T	snv	0.34; 8.0E-06		4
rs1050501	FCGR2B	0.732	0.440	1	161674008	missense variant	T/C	snv	0.16	0.19	15
rs1130864	CRP	0.672	0.520	1	159713301	3 prime UTR variant	G/A	snv		0.26	27
rs1143679	ITGAM	0.732	0.520	16	31265490	missense variant	G/A	snv	9.7E-02	0.11	14
rs1150754	TNXB	0.851	0.200	6	32082981	intron variant	C/A;T	snv			4
rs1188383936	F2	0.524	0.760	11	46725976	missense variant	C/T	snv	8.0E-06		102
rs11889341	STAT4	0.732	0.480	2	191079016	intron variant	C/T	snv		0.21	12
rs1205	CRP	0.602	0.680	1	159712443	3 prime UTR variant	C/T	snv		0.30	46
rs1206255976	C1QA	0.851	0.160	1	22637618	start lost	T/G	snv		7.0E-06	4
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121908117	ATRIP ; TREX1 ; ATRIP-TREX1	0.708	0.440	3	48466707	missense variant	G/A	snv			17
rs12583006	TNFSF13B	0.807	0.320	13	108285104	intron variant	T/A	snv		0.21	8
rs1270942	CFB ; CYP21A2	0.742	0.440	6	31951083	non coding transcript exon variant	A/G	snv		7.5E-02	11
rs12938	C1orf112 ; SELL	0.851	0.160	1	169691640	3 prime UTR variant	A/G	snv		0.27	5
rs13023380	IFIH1	0.851	0.160	2	162297853	intron variant	G/A	snv		0.35	4
rs1341239	PRL ; CASC15	0.776	0.360	6	22303975	intron variant	A/C	snv		0.65	8
rs1518110	IL10 ; IL19	0.851	0.160	1	206771516	intron variant	A/C;T	snv			5
rs1518111	IL19 ; IL10	0.790	0.360	1	206771300	intron variant	T/C	snv		0.71	9
rs1616583		0.882	0.120	X	12891363	downstream gene variant	C/G	snv		0.24	3
rs1678542	KIF5A	0.790	0.320	12	57574932	intron variant	C/G	snv		0.42	9
rs17615	CR2	0.827	0.200	1	207473117	missense variant	G/A	snv	0.26	0.31	5
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1800625	AGER ; PBX2	0.641	0.680	6	32184665	upstream gene variant	A/G	snv		0.15	39