DisGeNET - a database of gene-disease associations

List of associated variants

Arthritis, C0003864

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
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
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs7574865	STAT4	0.574	0.720	2	191099907	intron variant	T/G	snv		0.79	59
rs1061622	TNFRSF1B	0.633	0.760	1	12192898	missense variant	T/G	snv	0.22	0.22	33
rs1477353313	ACR	0.925	0.120	22	50744085	missense variant	T/G	snv			2
rs2230926	TNFAIP3	0.662	0.440	6	137874929	missense variant	T/C;G	snv	4.0E-06; 5.4E-02		27
rs2501432	CNR2	0.716	0.480	1	23875430	missense variant	T/C;G	snv	0.62		16
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs3024498	IL10	0.790	0.360	1	206768184	3 prime UTR variant	T/C	snv		0.20	7
rs17197936		0.925	0.040	13	37601702	upstream gene variant	T/C	snv		5.2E-02	3
rs204991	GPSM3	0.882	0.200	6	32193589	intron variant	T/C	snv		0.21	3
rs73115010	CD40	1.000	0.040	20	46124597	intron variant	T/C	snv		0.18	1
rs3789604	RSBN1 ; AP4B1-AS1	0.776	0.360	1	113812320	synonymous variant	T/A;C;G	snv	8.5E-06; 1.3E-05; 0.17		9
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		72
rs104895094	MEFV	0.851	0.320	16	3243403	missense variant	T/A;C	snv	8.0E-06; 5.2E-03		5
rs741761	SEMA7A ; MIR6881	0.882	0.200	15	74411588	missense variant	T/A;C	snv	1.8E-04; 0.35		3
rs10911363	SMG7 ; NCF2	0.925	0.120	1	183580622	intron variant	G/T	snv		0.30	2
rs1385889785	FCRL3	1.000	0.040	1	157695436	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		2
rs755622	MIF-AS1 ; MIF	0.611	0.720	22	23894205	intron variant	G/C	snv		0.26	44
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs13277113	BLK	0.695	0.520	8	11491677	intron variant	G/A	snv		0.25	18
rs1143679	ITGAM	0.732	0.520	16	31265490	missense variant	G/A	snv	9.7E-02	0.11	14
rs771184127	NOD2	0.790	0.200	16	50710807	missense variant	G/A	snv	1.2E-05	2.1E-05	9