DisGeNET - a database of gene-disease associations

List of shared variants

Cerebellar Ataxia, C0007758

Disease: Seizures

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
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs606231435	ATP1A3	0.827	0.240	19	41970539	missense variant	C/T	snv			17
rs758361736	KIF7	0.776	0.240	15	89649836	missense variant	T/G	snv	1.3E-05	1.4E-05	16
rs869312702	CIZ1 ; DNM1	0.827	0.160	9	128203609	missense variant	G/A	snv			10
rs145465528	LAMA2	0.882	0.240	6	129143976	missense variant	C/T	snv	6.0E-05	9.1E-05	7
rs1564617866	POLR3A	0.925	0.200	10	78000983	missense variant	T/G	snv			7
rs1554943158	DEAF1	0.882	0.040	11	681045	inframe deletion	CTT/-	delins			6
rs1555889162	KCNB1 ; LOC105372649	0.882	0.040	20	49374931	missense variant	G/A;C	snv			6
rs1057518821	SLC2A1	1.000		1	42930671	frameshift variant	-/C	delins			5
rs1565339091	LOC107984406 ; HEPACAM	1.000	0.200	11	124924796	missense variant	T/C	snv			4