DisGeNET - a database of gene-disease associations

List of associated variants

Juvenile rheumatoid arthritis, C3714757

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
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs361525	TNF	0.562	0.760	6	31575324	upstream gene variant	G/A	snv		4.6E-02	62
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs3743930	MEFV	0.611	0.720	16	3254626	missense variant	C/G;T	snv	7.1E-02		43
rs57095329	MIR3142HG	0.677	0.480	5	160467840	intron variant	A/G	snv		7.8E-02	25
rs2488457	AP4B1-AS1 ; PTPN22	0.763	0.480	1	113872746	intron variant	G/A;C	snv			11
rs2431697		0.776	0.240	5	160452971	intron variant	T/C	snv		0.44	10
rs11466018	MEFV	0.827	0.200	16	3254739	missense variant	A/G	snv	6.6E-03	2.2E-03	7