DisGeNET - a database of gene-disease associations

List of shared variants

Cerebellar Ataxia, C0007758

Disease: Cerebellar atrophy

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
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs387906799	KIF1A	0.742	0.200	2	240788118	missense variant	G/A	snv			19
rs1554768245	SYNE1	0.807	0.160	6	152472395	frameshift variant	C/-	delins			16
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			15
rs121908212	CACNA1A	0.732	0.160	19	13303877	missense variant	G/A	snv			14
rs58982919	NEFL	0.790	0.080	8	24956223	missense variant	T/C	snv			10
rs755221106	CACNA1G	0.851	0.040	17	50617560	missense variant	G/A;T	snv	4.0E-06		7
rs58332872	NEFL	0.882	0.080	8	24956248	missense variant	C/T	snv			5