DisGeNET - a database of gene-disease associations

List of associated variants

Rheumatoid Arthritis, C0003873

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
rs17860508	LOC285626	0.752	0.360	5	159333192	intron variant	TTAGAG/GC	delins			11
rs35761398	CNR2	0.701	0.520	1	23875429	missense variant	TT/CC	mnv			19
rs879761216	CNR2	0.732	0.480	1	23875429	frameshift variant	TT/C;T	delins			14
rs63750953	HBB	0.790	0.400	11	5227097	5 prime UTR variant	TT/-	delins		7.0E-06	10
rs34448891	SLC11A1	0.925	0.160	2	218381927	upstream gene variant	TGTGTGTG/-;TG;TGTG;TGTGTG;TGTGTGTGTG;TGTGTGTGTGTG;TGTGTGTGTGTGTG;TGTGTGTGTGTGTGTG	delins			2
rs17235416	SLC11A1	0.807	0.200	2	218395091	3 prime UTR variant	TGTG/-	del		8.4E-02	6
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	93
rs3212227	IL12B	0.566	0.840	5	159315942	3 prime UTR variant	T/G	snv		0.26	65
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs1946518	IL18	0.602	0.760	11	112164735	intron variant	T/G	snv		0.60	46
rs2282679	GC	0.645	0.480	4	71742666	intron variant	T/G	snv		0.21	38
rs1061622	TNFRSF1B	0.633	0.760	1	12192898	missense variant	T/G	snv	0.22	0.22	33
rs2004640	IRF5	0.662	0.520	7	128938247	splice donor variant	T/G	snv		0.52	26
rs12212067	FOXO3	0.716	0.320	6	108659993	intron variant	T/G	snv		0.14	20
rs7517847	IL23R ; C1orf141	0.689	0.600	1	67215986	intron variant	T/G	snv		0.37	19
rs6136	SELP	0.752	0.440	1	169594713	missense variant	T/G	snv	8.2E-02	7.5E-02	17
rs3117582	BAG6 ; APOM	0.716	0.440	6	31652743	intron variant	T/G	snv		7.1E-02	14
rs2243115	IL12A-AS1 ; IL12A	0.776	0.320	3	159988493	intron variant	T/G	snv		0.10	12
rs7192	HLA-DRA	0.827	0.200	6	32443869	missense variant	T/G	snv	0.64	0.61	7
rs7775397	TSBP1-AS1 ; TSBP1	0.790	0.400	6	32293475	missense variant	T/G	snv	6.0E-02	6.4E-02	7
rs9275141		0.827	0.240	6	32683340	intergenic variant	T/G	snv		0.50	6
rs1063355	HLA-DQB1-AS1 ; HLA-DQB1	0.827	0.320	6	32659937	3 prime UTR variant	T/G	snv		0.56	5
rs2259571	AIF1	0.925	0.120	6	31616050	5 prime UTR variant	T/G	snv		0.28	5