DisGeNET - a database of gene-disease associations

List of associated variants

Childhood Onset Dystonias, C0752202

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
rs756421370	MECR	0.807	0.120	1	29200513	splice donor variant	-/A	delins	1.4E-04	6.3E-05	8
rs730882147	MED20	0.851	0.080	6	41909351	missense variant	C/G	snv		7.0E-06	5
rs895293055	MED20	0.851	0.080	6	41909351	frameshift variant	C/-	delins			5
rs1057519286	MECR	0.882	0.080	1	29196234	stop gained	A/C;G	snv			3
rs1057519287	MECR	0.882	0.080	1	29216612	frameshift variant	TGAT/-	delins			3
rs145192716	MECR	0.882	0.080	1	29200574	missense variant	G/A	snv	6.4E-05	6.3E-05	3
rs759218713	MECR	0.882	0.080	1	29196235	missense variant	T/C	snv	8.0E-06	7.0E-06	3
rs762913101	MECR	0.882	0.080	1	29202004	missense variant	C/T	snv	7.2E-05	2.1E-05	3