DisGeNET - a database of gene-disease associations

List of associated variants

Cerebellar Ataxia, C0007758

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
rs1057520918	CACNA1A	0.790	0.160	19	13262780	missense variant	C/T	snv			7
rs145465528	LAMA2	0.882	0.240	6	129143976	missense variant	C/T	snv	6.0E-05	9.1E-05	7
rs372445155	NPC1	0.851	0.280	18	23554890	missense variant	G/A	snv	1.6E-05	2.1E-05	7
rs121908681	PLA2G6	0.851	0.160	22	38120867	missense variant	T/C;G	snv	2.4E-05		7
rs80338700	PMM2	0.851	0.200	16	8806398	missense variant	C/G;T	snv	4.0E-06; 2.4E-05		7
rs1564617866	POLR3A	0.925	0.200	10	78000983	missense variant	T/G	snv			7
rs1554555063	TMEM67	0.882	0.160	8	93791324	splice region variant	G/A	snv			7
rs1114167423	APTX	0.882	0.240	9	32984704	stop gained	T/A	snv			6
rs1555661648	AQP4 ; AQP4-AS1	0.882	0.240	18	26862297	missense variant	C/G	snv			6
rs1561515242	CAMK4	1.000	0.080	5	111482938	splice donor variant	G/A	snv			6
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
rs137853066	KCNJ10	0.827	0.320	1	160042339	missense variant	C/G;T	snv	8.0E-06		6
rs775141057	LOC100287944 ; POLR3B	0.882	0.120	12	106496115	missense variant	C/A;T	snv	4.0E-06	2.1E-05	6
rs1057518965	ATM	0.882	0.320	11	108244812	frameshift variant	A/-	delins			5
rs121908212	CACNA1A	0.732	0.160	19	13303877	missense variant	G/A	snv			5
rs754081544	MRPL43 ; TWNK	0.925	0.080	10	100988947	missense variant	A/G	snv	1.6E-05	7.0E-06	5
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	5
rs63750231	PSEN1	0.689	0.160	14	73198100	missense variant	A/C;G	snv			5
rs1057518821	SLC2A1	1.000		1	42930671	frameshift variant	-/C	delins			5
rs141659620	SPG7	0.882	0.160	16	89531961	missense variant	G/A;C	snv	8.3E-04; 8.0E-06		5
rs72547551	SPG7	0.882	0.160	16	89550545	missense variant	C/T	snv	3.6E-05	1.5E-04	5
rs748309520	SPG7	0.882	0.160	16	89531903	splice acceptor variant	G/A	snv	1.6E-05	7.0E-06	5
rs752989523	SPG7	0.882	0.160	16	89553853	stop gained	G/A;C	snv	8.0E-06		5
rs879253797	SPG7	0.882	0.160	16	89556954	missense variant	C/T	snv		1.4E-05	5