DisGeNET - a database of gene-disease associations

List of associated variants

Myositis, C0027121

Source: GWASCAT ×

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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
rs11085725	TYK2	0.851	0.160	19	10351837	intron variant	C/T	snv		0.24	4
rs13238352	TNPO3	0.827	0.240	7	129007888	intron variant	C/T	snv		9.1E-02	4
rs4958880	TNIP1	0.851	0.160	5	151058916	intron variant	C/A;G	snv			4
rs10174238	STAT4	0.724	0.200	2	191108308	intron variant	G/A	snv		0.70	12
rs13389408	STAT4	0.851	0.160	2	191068557	3 prime UTR variant	T/C	snv		7.4E-02	4
rs11066301	PTPN11	0.827	0.200	12	112433568	intron variant	A/G	snv		0.30	7
rs76246107	PRR12	0.851	0.160	19	49618017	intron variant	G/A	snv		7.7E-02	4
rs6679677	PHTF1	0.653	0.320	1	113761186	upstream gene variant	C/A	snv		6.7E-02	25
rs17849502	NCF2 ; SMG7	0.827	0.240	1	183563445	missense variant	G/A;C;T	snv	4.0E-06; 4.0E-06; 3.4E-02		5
rs114771815	MICB-DT	1.000	0.080	6	31484059	intron variant	T/C	snv			1
rs116662199	MICB-DT	1.000	0.080	6	31481199	non coding transcript exon variant	C/A	snv			1
rs3130614	MICB	1.000	0.080	6	31508681	intron variant	T/A	snv		7.3E-02	1
rs2422345	LOC100506023 ; TNFSF4	0.851	0.160	1	173368608	upstream gene variant	G/A	snv		0.63	4
rs10954214	IRF5	0.851	0.160	7	128949579	3 prime UTR variant	C/T	snv		0.64	4
rs6659932	IL12RB2	0.827	0.240	1	67336688	intron variant	A/C	snv		0.81	4
rs114012716	HCP5	1.000	0.080	6	31466589	non coding transcript exon variant	G/A	snv			1
rs115146037	HCP5	1.000	0.080	6	31466554	non coding transcript exon variant	A/T	snv			1
rs115902351	HCP5	1.000	0.080	6	31466844	non coding transcript exon variant	A/G	snv			1
rs116088953	HCP5	1.000	0.080	6	31475005	intron variant	G/A	snv			1
rs35677470	DNASE1L3	0.807	0.160	3	58197909	missense variant	G/A;C	snv	4.8E-02; 4.0E-06		5
rs13101828	DGKQ	0.851	0.160	4	971932	intron variant	A/G	snv		0.43	6
rs6599390	DGKQ	1.000	0.080	4	962259	intron variant	A/G	snv		0.69	1
rs9267488	DDX39B ; NFKBIL1 ; ATP6V1G2-DDX39B ; ATP6V1G2	1.000	0.080	6	31546470	splice region variant	A/G	snv	8.1E-02	9.9E-02	1
rs114050967	DDX39B ; ATP6V1G2-DDX39B ; SNORD117	1.000	0.080	6	31537703	intron variant	A/G	snv			1
rs5754467	CCDC116 ; YDJC	0.851	0.160	22	21630805	upstream gene variant	A/G;T	snv			4