DisGeNET - a database of gene-disease associations

List of associated variants

Arthritis, C0003864

Source: ALL

Results per page

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
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
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		72
rs20541	IL13 ; TH2LCRR	0.585	0.720	5	132660272	missense variant	A/G	snv	0.72	0.77	52
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs3743930	MEFV	0.611	0.720	16	3254626	missense variant	C/G;T	snv	7.1E-02		43
rs1061622	TNFRSF1B	0.633	0.760	1	12192898	missense variant	T/G	snv	0.22	0.22	33
rs2230926	TNFAIP3	0.662	0.440	6	137874929	missense variant	T/C;G	snv	4.0E-06; 5.4E-02		27
rs6897932	IL7R	0.683	0.560	5	35874473	missense variant	C/T	snv	0.23	0.21	25
rs35761398	CNR2	0.701	0.520	1	23875429	missense variant	TT/CC	mnv			19
rs28940580	MEFV	0.742	0.560	16	3243447	missense variant	C/A;G;T	snv	1.0E-04; 8.0E-06		17
rs2501432	CNR2	0.716	0.480	1	23875430	missense variant	T/C;G	snv	0.62		16
rs224222	MEFV	0.724	0.440	16	3254463	missense variant	C/T	snv	0.24	0.21	15
rs28936375	CPT2	0.752	0.320	1	53197092	missense variant	C/A	snv	1.7E-04	2.2E-04	15
rs1143679	ITGAM	0.732	0.520	16	31265490	missense variant	G/A	snv	9.7E-02	0.11	14
rs12150220	NLRP1	0.724	0.360	17	5582047	missense variant	A/T	snv	0.37	0.33	14
rs1057523354	COL4A1	0.763	0.480	13	110179387	missense variant	C/A	snv			13
rs1194611372	S100A11	0.763	0.320	1	152032679	missense variant	A/C	snv			9
rs771184127	NOD2	0.790	0.200	16	50710807	missense variant	G/A	snv	1.2E-05	2.1E-05	9
rs1057519090	COL4A2	0.851	0.160	13	110492105	missense variant	G/A	snv			7