DisGeNET - a database of gene-disease associations

List of shared variants

Autoimmune Diseases, C0004364

Disease: Lupus Erythematosus, Systemic

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
rs17266594	BANK1	0.807	0.280	4	101829765	intron variant	T/C	snv	0.25	0.27	7
rs10516487	BANK1	0.752	0.360	4	101829919	missense variant	G/A;T	snv	0.26; 8.0E-06		11
rs3733197	BANK1	0.742	0.320	4	101918130	missense variant	G/A	snv	0.31	0.30	13
rs2075184		0.724	0.240	2	102464132	intergenic variant	T/C	snv		0.78	14
rs34536443	TYK2	0.667	0.400	19	10352442	missense variant	G/C	snv	2.7E-02	2.8E-02	25
rs35018800	TYK2	0.790	0.160	19	10354167	missense variant	G/A	snv	4.6E-03	4.9E-03	9
rs12720356	TYK2	0.752	0.360	19	10359299	missense variant	A/C;G	snv	6.1E-02; 4.0E-06		12
rs62131887		0.724	0.240	19	10476920	intergenic variant	C/T	snv		0.37	14
rs548234	ATG5	0.763	0.360	6	106120159	intron variant	C/T	snv		0.76	11
rs11839053		0.724	0.240	13	106410694	intergenic variant	T/C	snv		7.0E-02	14
rs878859113	CD24	0.763	0.360	6	106971734	missense variant	G/A	snv		0.35	11
rs3087456	CIITA ; LOC105371080	0.742	0.480	16	10877045	intron variant	G/A	snv		0.53	14
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	41
rs33980500	TRAF3IP2-AS1 ; TRAF3IP2	0.742	0.200	6	111592059	missense variant	C/T	snv	8.6E-02	9.7E-02	14
rs6679677	PHTF1	0.653	0.320	1	113761186	upstream gene variant	C/A	snv		6.7E-02	26
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs33996649	PTPN22 ; AP4B1-AS1	0.732	0.400	1	113852067	missense variant	C/T	snv	1.7E-02	1.6E-02	13
rs4246905	TNFSF15	0.716	0.400	9	114790969	missense variant	T/A;C	snv	0.76		16
rs6478109	TNFSF15	0.752	0.320	9	114806486	upstream gene variant	A/G	snv		0.74	12
rs2736340		0.683	0.480	8	11486464	upstream gene variant	C/T	snv		0.25	22
rs13277113	BLK	0.695	0.520	8	11491677	intron variant	G/A	snv		0.25	18
rs4840568	BLK	0.882	0.160	8	11493510	intron variant	G/A	snv		0.32	4
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs638893		0.882	0.080	11	118827828	intergenic variant	G/A	snv		0.79	4
rs3761847	TRAF1	0.827	0.200	9	120927961	intron variant	G/A	snv		0.52	8