DisGeNET - a database of gene-disease associations

List of associated variants

Degenerative polyarthritis, C0029408

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
rs3783553	IL1A	0.667	0.480	2	112774138	3 prime UTR variant	-/TGAA	delins			26
rs1800587	IL1A	0.620	0.720	2	112785383	upstream gene variant	G/A;C	snv		0.32	43
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs1143633	IL1B	0.752	0.280	2	112832890	intron variant	C/G;T	snv			11
rs1143627	IL1B	0.605	0.760	2	112836810	5 prime UTR variant	G/A	snv		0.56	47
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92
rs11842874	MCF2L	1.000	0.040	13	113040195	intron variant	A/G	snv		0.12	1
rs419598	IL1RN	0.742	0.280	2	113129630	synonymous variant	T/C	snv	0.26	0.21	13
rs919642	LOC105376225	1.000	0.040	9	114148867	intergenic variant	A/T	snv		0.22	2
rs11965969	NT5DC1 ; COL10A1	1.000	0.040	6	116131040	intron variant	T/G	snv		0.50	1
rs763810877	GPRC6A	1.000	0.040	6	116806885	missense variant	T/C	snv	1.2E-04	3.5E-05	1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs4144782	EN1	0.925	0.040	2	118844296	non coding transcript exon variant	A/C;G	snv			2
rs1905786	TNFRSF11B	1.000	0.040	8	118939453	intron variant	T/A;C	snv			2
rs1032128	TNFRSF11B	1.000	0.040	8	118939534	intron variant	G/A	snv		0.30	1
rs1564861	COLEC10 ; TNFRSF11B	1.000	0.040	8	118953670	upstream gene variant	A/C	snv		0.43	1
rs7958311	P2RX7 ; LOC105370032	0.851	0.160	12	121167552	missense variant	G/A;C	snv	0.25; 4.0E-06		5
rs2908004	WNT16	1.000	0.040	7	121329715	missense variant	G/A;T	snv	0.44; 4.0E-06		4
rs121913474	FGFR2	0.790	0.200	10	121515260	missense variant	A/G	snv			9
rs121918505	FGFR2	0.851	0.080	10	121520119	missense variant	A/G	snv			5
rs7135617	ORAI1	0.827	0.240	12	121631099	intron variant	T/C;G	snv			5
rs1061622	TNFRSF1B	0.633	0.760	1	12192898	missense variant	T/G	snv	0.22	0.22	33
rs10654220	MPHOSPH9	1.000	0.040	12	123218875	intron variant	-/TGT;TGTTGT	delins			2
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121