DisGeNET - a database of gene-disease associations

List of shared variants

Ataxia, C0004134

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
rs752298579	TANGO2	0.701	0.480	22	20061538	missense variant	G/A	snv	1.4E-04	7.0E-06	48
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
rs672601370	KIF1A	0.790	0.160	2	240775863	missense variant	G/A	snv			13
rs58982919	NEFL	0.790	0.080	8	24956223	missense variant	T/C	snv			10
rs1553281318	COQ8A	0.882	0.120	1	226986536	frameshift variant	-/A	delins			7
rs672601362	KIF1A	0.851	0.080	2	240789246	missense variant	G/A	snv			7
rs755221106	CACNA1G	0.851	0.040	17	50617560	missense variant	G/A;T	snv	4.0E-06		7
rs730882209	SETX	0.925	0.080	9	132326375	frameshift variant	-/C	delins			6
rs58332872	NEFL	0.882	0.080	8	24956248	missense variant	C/T	snv			5