DisGeNET - a database of gene-disease associations

List of shared variants

Poor school performance, C1843367

Disease: Cerebellar Ataxia

Source: CLINVAR ×

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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
rs387906799	KIF1A	0.742	0.200	2	240788118	missense variant	G/A	snv			17
rs753635972	ST20-MTHFS ; MTHFS	0.790	0.120	15	79845388	missense variant	C/T	snv	3.2E-05	2.1E-05	15
rs771379232	MTHFS ; ST20-MTHFS	0.790	0.120	15	79845338	stop gained	G/A	snv	2.0E-05	3.5E-05	15
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			14
rs267607116	TMEM67	0.851	0.160	8	93808861	missense variant	G/A;C	snv			8
rs1554555063	TMEM67	0.882	0.160	8	93791324	splice region variant	G/A	snv			7
rs1564617866	POLR3A	0.925	0.200	10	78000983	missense variant	T/G	snv			7
rs1561515242	CAMK4	1.000	0.080	5	111482938	splice donor variant	G/A	snv			6