DisGeNET - a database of gene-disease associations

List of associated variants

Rheumatoid Arthritis, C0003873

Source: CURATED ×

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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
rs10174238	STAT4	0.724	0.200	2	191108308	intron variant	G/A	snv		0.70	12
rs3830041	NOTCH4	0.752	0.280	6	32223562	intron variant	C/T	snv		0.11	11
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv			11
rs11066301	PTPN11	0.827	0.200	12	112433568	intron variant	A/G	snv		0.30	11
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	11
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	10
rs1378942	CSK	0.790	0.240	15	74785026	intron variant	C/A;T	snv			10
rs1480380	HLA-DMB	0.763	0.360	6	32945469	intron variant	C/T	snv		0.11	10
rs2395185	HLA-DRB9	0.724	0.360	6	32465390	intron variant	G/T	snv		0.29	10
rs1990760	IFIH1	0.672	0.480	2	162267541	missense variant	C/T	snv	0.50	0.45	10
rs389884	STK19 ; CYP21A2 ; DXO	0.776	0.440	6	31973120	non coding transcript exon variant	A/G	snv		7.1E-02	10
rs10488631	TNPO3	0.742	0.280	7	128954129	upstream gene variant	T/C	snv		9.0E-02	10
rs12153855	TNXB	0.776	0.320	6	32107027	intron variant	T/C	snv		0.11	10
rs185819	TNXB	0.851	0.200	6	32082290	missense variant	T/A;C;G	snv	8.2E-06; 0.58; 4.1E-06		10
rs6457617		0.763	0.480	6	32696074	intergenic variant	C/A;T	snv			9
rs9271366		0.807	0.240	6	32619077	intergenic variant	G/A	snv		0.86	9
rs9275572		0.724	0.360	6	32711222	upstream gene variant	A/G;T	snv			9
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	9
rs1980493	BTNL2 ; TSBP1-AS1	0.776	0.400	6	32395438	intron variant	T/C	snv		0.13	9
rs652888	EHMT2-AS1 ; EHMT2 ; LOC107986588 ; CYP21A2	0.776	0.480	6	31883457	non coding transcript exon variant	A/G	snv	0.18	0.20	9
rs6457374	HLA-B ; LOC112267902	0.851	0.200	6	31304484	intron variant	C/T	snv		0.81	9
rs2516049	HLA-DRB1	0.742	0.400	6	32602623	intergenic variant	T/C	snv		0.27	9
rs9268853	HLA-DRB9	0.790	0.440	6	32461866	intron variant	T/C	snv		0.29	9
rs12198173	TNXB	0.827	0.240	6	32059031	intron variant	G/A	snv		0.10	9
rs13199524	TNXB	0.807	0.240	6	32098988	intron variant	C/T	snv		8.4E-02	9