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
rs80057746		1.000	0.040	4	78701519	intergenic variant	C/T	snv		1.7E-02	1
rs4343	ACE	0.742	0.480	17	63488670	synonymous variant	G/A	snv	0.53		14
rs4362	ACE	0.807	0.240	17	63496400	missense variant	T/C;G	snv	0.52; 1.2E-05	0.51	9
rs1800682	ACTA2 ; FAS	0.637	0.440	10	88990206	non coding transcript exon variant	A/G	snv		0.54	32
rs1871054	ADAM12	0.925	0.040	10	126093840	intron variant	C/A;T	snv			3
rs3740199	ADAM12	0.882	0.120	10	126330456	missense variant	C/A;G	snv	2.1E-03; 0.56		3
rs1044122	ADAM12	0.925	0.040	10	126036209	synonymous variant	A/G	snv	0.27	0.26	2
rs1278279	ADAM12	0.925	0.040	10	126064909	missense variant	G/A;C	snv	0.27		2
rs4747096	ADAMTS14	0.925	0.040	10	70758253	missense variant	A/G;T	snv	0.19	0.19	2
rs4233367	ADAMTS4	0.925	0.040	1	161193247	missense variant	T/A;C	snv	0.67		2
rs11807350	ADAMTS4	1.000	0.040	1	161191145	missense variant	C/T	snv	3.1E-04	4.7E-04	1
rs226794	ADAMTS5	0.882	0.160	21	26930036	missense variant	A/G	snv	0.83	0.89	3
rs2830585	ADAMTS5	1.000	0.040	21	26932893	missense variant	C/T	snv	0.12	0.12	2
rs182052	ADIPOQ	0.701	0.440	3	186842993	intron variant	G/A	snv		0.38	19
rs2082940	ADIPOQ-AS1 ; ADIPOQ	0.763	0.480	3	186856375	3 prime UTR variant	T/A;C	snv			10
rs6773957	ADIPOQ ; ADIPOQ-AS1	1.000	0.040	3	186855916	3 prime UTR variant	A/C;G	snv		0.55	2
rs2070600	AGER	0.561	0.760	6	32183666	missense variant	C/T	snv	5.3E-02	3.6E-02	82
rs4238326	ALDH1A2	0.925	0.040	15	58043802	intron variant	T/C	snv		0.28	2
rs12915901	ALDH1A2	1.000	0.040	15	57987234	intron variant	G/A	snv		0.37	1
rs3204689	ALDH1A2	1.000	0.040	15	57954604	3 prime UTR variant	G/C	snv		0.37	1
rs34811474	ANAPC4	1.000	0.040	4	25407216	missense variant	G/A;T	snv	0.15; 4.1E-06		8
rs7164503	ANP32A	0.925	0.040	15	68789051	intron variant	T/C	snv		0.27	2
rs13301537	ASPN ; CENPP	0.925	0.040	9	92466765	intron variant	A/G	snv		0.38	2
rs7805536	AVL9	1.000	0.040	7	32533958	non coding transcript exon variant	T/C	snv		0.15	1
rs3117582	BAG6 ; APOM	0.716	0.440	6	31652743	intron variant	T/G	snv		7.1E-02	14