DisGeNET - a database of gene-disease associations

List of associated variants

Degenerative polyarthritis, C0029408

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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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	34
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	31
rs13107325	SLC39A8	0.776	0.520	4	102267552	missense variant	C/A;T	snv	4.0E-06; 4.5E-02		30
rs61752717	MEFV	0.583	0.840	16	3243407	missense variant	T/A;C	snv	2.8E-04		20
rs143384	GDF5	0.827	0.200	20	35437976	5 prime UTR variant	G/A	snv		0.44	14
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	9
rs34811474	ANAPC4	1.000	0.040	4	25407216	missense variant	G/A;T	snv	0.15; 4.1E-06		8
rs3117582	BAG6 ; APOM	0.716	0.440	6	31652743	intron variant	T/G	snv		7.1E-02	8
rs1800682	ACTA2 ; FAS	0.637	0.440	10	88990206	non coding transcript exon variant	A/G	snv		0.54	7
rs12149832	FTO	0.851	0.120	16	53808996	intron variant	G/A	snv		0.31	7
rs7775228		0.790	0.360	6	32690302	TF binding site variant	T/C	snv		0.15	5
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	5
rs1024611		0.568	0.800	17	34252769	upstream gene variant	A/G	snv		0.28	4
rs1126464	DPEP1	1.000	0.040	16	89637957	missense variant	G/A;C	snv	1.3E-05; 0.26		4
rs6976	GNL3 ; GLT8D1	0.851	0.080	3	52694788	3 prime UTR variant	C/T	snv	0.38	0.33	4
rs2820436	LYPLAL1-AS1	0.882	0.040	1	219467338	intergenic variant	A/C;G	snv			4
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			4
rs10492367		0.882	0.040	12	27862037	regulatory region variant	G/T	snv		0.12	3
rs532464664	CHADL	0.882	0.040	22	41238083	frameshift variant	-/GCCCGCGC	delins	4.8E-03	1.2E-02	3
rs2622873	COL11A1	0.882	0.040	1	103000497	intron variant	T/C;G	snv			3
rs12982744	DOT1L	0.925	0.040	19	2177194	intron variant	C/A;G;T	snv			3
rs121913474	FGFR2	0.790	0.200	10	121515260	missense variant	A/G	snv			3
rs121918505	FGFR2	0.851	0.080	10	121520119	missense variant	A/G	snv			3
rs8044769	FTO	0.851	0.200	16	53805223	intron variant	T/A;C;G	snv			3
rs143383	GDF5	0.724	0.320	20	35438203	5 prime UTR variant	G/A	snv		0.47	3