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
rs4958847	IRGM	0.807	0.120	5	150860025	intron variant	G/A	snv		0.25	8
rs771184127	NOD2	0.790	0.200	16	50710807	missense variant	G/A	snv	1.2E-05	2.1E-05	9
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
rs1194611372	S100A11	0.763	0.320	1	152032679	missense variant	A/C	snv			9
rs10499194		0.752	0.400	6	137681500	intron variant	C/T	snv		0.24	10
rs10036748	TNIP1	0.752	0.360	5	151078585	intron variant	C/A;T	snv			11
rs1057523354	COL4A1	0.763	0.480	13	110179387	missense variant	C/A	snv			13
rs879761216	CNR2	0.732	0.480	1	23875429	frameshift variant	TT/C;T	delins			14
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
rs28936375	CPT2	0.752	0.320	1	53197092	missense variant	C/A	snv	1.7E-04	2.2E-04	15
rs224222	MEFV	0.724	0.440	16	3254463	missense variant	C/T	snv	0.24	0.21	15
rs2670660	NLRP1	0.708	0.400	17	5615686	intron variant	A/G	snv		0.41	15
rs2501432	CNR2	0.716	0.480	1	23875430	missense variant	T/C;G	snv	0.62		16
rs28940580	MEFV	0.742	0.560	16	3243447	missense variant	C/A;G;T	snv	1.0E-04; 8.0E-06		17
rs13277113	BLK	0.695	0.520	8	11491677	intron variant	G/A	snv		0.25	18
rs35761398	CNR2	0.701	0.520	1	23875429	missense variant	TT/CC	mnv			19
rs6897932	IL7R	0.683	0.560	5	35874473	missense variant	C/T	snv	0.23	0.21	25
rs2230926	TNFAIP3	0.662	0.440	6	137874929	missense variant	T/C;G	snv	4.0E-06; 5.4E-02		27
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
rs3743930	MEFV	0.611	0.720	16	3254626	missense variant	C/G;T	snv	7.1E-02		43
rs755622	MIF-AS1 ; MIF	0.611	0.720	22	23894205	intron variant	G/C	snv		0.26	44
rs1416580204	MOK	0.608	0.720	14	102250837	missense variant	C/T	snv	4.0E-06	7.0E-06	49
rs20541	IL13 ; TH2LCRR	0.585	0.720	5	132660272	missense variant	A/G	snv	0.72	0.77	52