DisGeNET - a database of gene-disease associations

List of associated variants

Adult type dermatomyositis, C0221056

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
rs2230926	TNFAIP3	0.662	0.440	6	137874929	missense variant	T/C;G	snv	4.0E-06; 5.4E-02		27
rs5029939	TNFAIP3	0.701	0.440	6	137874586	intron variant	C/G	snv		0.13	19
rs2304256	TYK2	0.732	0.360	19	10364976	missense variant	C/A	snv	0.27	0.23	13
rs280519	TYK2	0.752	0.320	19	10362257	splice region variant	A/C;G	snv	0.50		10
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