DisGeNET - a database of gene-disease associations

List of shared variants

Ataxia, C0004134

Disease: Movement Disorders

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
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs61755320	SPG7	0.716	0.520	16	89546737	missense variant	C/T	snv	2.9E-03	3.5E-03	41
rs606231435	ATP1A3	0.827	0.240	19	41970539	missense variant	C/T	snv			18
rs74315402	PRNP	0.882	0.200	20	4699570	missense variant	C/T	snv			7
rs886041761	KCNA2	0.925	0.200	1	110603902	missense variant	C/T	snv			6