DisGeNET - a database of gene-disease associations

List of associated variants

Lupus Erythematosus, Systemic, C0024141

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
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs371194629	HLA-G	0.790	0.320	6	29830804	3 prime UTR variant	-/ATTTGT;ATTTGTTCACGCCT;ATTTGTTCATGCCT	ins			8
rs70991108	MSH3 ; DHFR	0.807	0.280	5	80654344	intron variant	-/TCGCGCGTCCCGCCCAGGT;TGGCGCGTCCCGCCCAGGT	ins		0.51	6
rs1414323823	CYP1A1	0.851	0.160	15	74722772	frameshift variant	-/TCTCGGT	ins	4.0E-06		4
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs779315943	DNMT3A	0.882	0.160	2	25247708	frameshift variant	TTTCC/-	del			5
rs333	CCR5 ; CCR5AS	0.667	0.520	3	46373453	frameshift variant	GTCAGTATCAATTCTGGAAGAATTTCCAGACA/-	delins		7.3E-02	23
rs17860508	LOC285626	0.752	0.360	5	159333192	intron variant	TTAGAG/GC	delins			11
rs5844572	MIF ; MIF-AS1	0.752	0.360	22	23893562	intron variant	-/ATTC	delins			11
rs148314165		0.925	0.160	6	137908902	intergenic variant	T/-	delins		2.0E-02	3
rs1565789104	KMT2D	0.925	0.120	12	49038730	frameshift variant	G/-	delins			2
rs267607656	KRT1	0.925	0.080	12	52675439	inframe deletion	GTAGCTGCTACCTCCGGAGCC/-	delins			2
rs77571059	IRF5	0.925	0.120	7	128937861	intron variant	GGGGCGGGGC/-;GGGGC;GGGGCGGGGCGGGGC;GGGGCGGGGCGGGGCGGGGC;GGGGCGGGGCGGGGCGGGGCGGGGC	delins			2
rs113478424	IRF5	1.000	0.080	7	128935744	upstream gene variant	TTAGCTATTGCTCC/-;TTAGCTATTGCTCCTTAGCTATTGCTCC	delins			1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182