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
rs10814916	GLIS3	0.851	0.200	9	4293150	intron variant	A/C	snv		0.57	7
rs1800451	MBL2	0.776	0.240	10	52771466	missense variant	C/T	snv	3.2E-02	7.9E-02	9
rs1800450	MBL2	0.662	0.640	10	52771475	missense variant	C/T	snv	0.14	0.11	26
rs5030737	MBL2	0.752	0.360	10	52771482	missense variant	G/A	snv	5.6E-02	5.0E-02	11
rs11171739	ERBB3	0.807	0.320	12	56076841	5 prime UTR variant	C/T	snv		0.49	10
rs2292239	ERBB3	0.742	0.480	12	56088396	intron variant	T/G	snv		0.65	13