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
rs778767225	MOK	0.851	0.200	14	102231805	missense variant	C/A	snv	2.4E-05	7.0E-06	4
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs1057523354	COL4A1	0.763	0.480	13	110179387	missense variant	C/A	snv			13
rs1057519090	COL4A2	0.851	0.160	13	110492105	missense variant	G/A	snv			7
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
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs13277113	BLK	0.695	0.520	8	11491677	intron variant	G/A	snv		0.25	18
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1061622	TNFRSF1B	0.633	0.760	1	12192898	missense variant	T/G	snv	0.22	0.22	33
rs1800925	IL13 ; TH2LCRR	0.627	0.560	5	132657117	non coding transcript exon variant	C/G;T	snv			37
rs20541	IL13 ; TH2LCRR	0.585	0.720	5	132660272	missense variant	A/G	snv	0.72	0.77	52
rs848	IL13 ; TH2LCRR	0.807	0.240	5	132660808	3 prime UTR variant	A/C	snv		0.67	8
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
rs2230926	TNFAIP3	0.662	0.440	6	137874929	missense variant	T/C;G	snv	4.0E-06; 5.4E-02		27
rs4958847	IRGM	0.807	0.120	5	150860025	intron variant	G/A	snv		0.25	8
rs11747270	IRGM	0.790	0.240	5	150879305	intron variant	A/G	snv		0.21	7
rs10036748	TNIP1	0.752	0.360	5	151078585	intron variant	C/A;T	snv			11
rs2234693	ESR1	0.555	0.680	6	151842200	intron variant	T/C	snv		0.47	77
rs1194611372	S100A11	0.763	0.320	1	152032679	missense variant	A/C	snv			9
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs1385889785	FCRL3	1.000	0.040	1	157695436	missense variant	G/C;T	snv	4.0E-06; 4.0E-06		2