DisGeNET - a database of gene-disease associations

List of associated variants

Dermatomyositis, C0011633

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
rs9501251	HLA-DPA1 ; HLA-DPB1	0.882	0.200	6	33081886	intron variant	A/G	snv		4.0E-02	3
rs9986765	PIP	0.925	0.120	7	143138146	intron variant	A/G	snv		0.12	3
rs1518364	PLCL1	0.925	0.120	2	197945251	intron variant	G/A	snv		0.49	3
rs938929	PLCL1	0.925	0.120	2	197916136	intron variant	A/G	snv		0.50	3
rs17000730	TYK2	0.882	0.120	19	10380572	5 prime UTR variant	T/C	snv		5.0E-03	3
rs280501	TYK2	0.882	0.120	19	10380646	upstream gene variant	C/T	snv		0.20	3
rs3750716	CPN1	0.925	0.120	10	100057106	synonymous variant	C/G;T	snv	6.6E-03		2
rs7750458	HLA-DPA1 ; HLA-DPB1	0.925	0.120	6	33077921	intron variant	G/A	snv		9.5E-02	2
rs9500928	HLA-DPB1 ; HLA-DPA1	0.925	0.120	6	33081917	intron variant	C/T	snv		4.0E-02	2