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
rs10036748	TNIP1	0.752	0.360	5	151078585	intron variant	C/A;T	snv			11
rs104895094	MEFV	0.851	0.320	16	3243403	missense variant	T/A;C	snv	8.0E-06; 5.2E-03		5
rs10491322	PPP2CA	0.925	0.120	5	134194449	3 prime UTR variant	A/G	snv		9.5E-02	3
rs10499194		0.752	0.400	6	137681500	intron variant	C/T	snv		0.24	10
rs1057519090	COL4A2	0.851	0.160	13	110492105	missense variant	G/A	snv			7
rs1057523354	COL4A1	0.763	0.480	13	110179387	missense variant	C/A	snv			13
rs1061622	TNFRSF1B	0.633	0.760	1	12192898	missense variant	T/G	snv	0.22	0.22	33
rs10911363	SMG7 ; NCF2	0.925	0.120	1	183580622	intron variant	G/T	snv		0.30	2
rs11168268	VDR	0.925	0.120	12	47858029	intron variant	G/A	snv		0.57	2
rs1143679	ITGAM	0.732	0.520	16	31265490	missense variant	G/A	snv	9.7E-02	0.11	14
rs11614913	HOXC6 ; MIR196A2	0.512	0.760	12	53991815	mature miRNA variant	C/T	snv	0.39	0.34	111
rs11747270	IRGM	0.790	0.240	5	150879305	intron variant	A/G	snv		0.21	7
rs1194611372	S100A11	0.763	0.320	1	152032679	missense variant	A/C	snv			9
rs12150220	NLRP1	0.724	0.360	17	5582047	missense variant	A/T	snv	0.37	0.33	14
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1234315	TNFSF4	0.807	0.400	1	173209324	upstream gene variant	C/T	snv		0.57	6
rs13277113	BLK	0.695	0.520	8	11491677	intron variant	G/A	snv		0.25	18
rs1385889785	FCRL3	1.000	0.040	1	157695436	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		2
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs1477353313	ACR	0.925	0.120	22	50744085	missense variant	T/G	snv			2
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs1562444	MTNR1B	0.925	0.120	11	92982683	3 prime UTR variant	G/A	snv		0.55	2
rs17197936		0.925	0.040	13	37601702	upstream gene variant	T/C	snv		5.2E-02	3
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262