DisGeNET - a database of gene-disease associations

List of associated variants

Cerebellar Ataxia, C0007758

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
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
rs587777343	STUB1 ; JMJD8	0.925	0.120	16	682232	missense variant	C/T	snv			5
rs201754030	TSFM	0.925	0.200	12	57796461	stop gained	C/T	snv	1.5E-03	1.3E-03	5
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
rs28940893	ARSA	0.827	0.160	22	50625392	missense variant	G/A	snv	3.9E-04	3.6E-04	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
rs104894107	FXN	0.882	0.160	9	69064942	missense variant	G/C;T	snv	3.6E-05; 2.8E-05		6
rs886041761	KCNA2	0.925	0.200	1	110603902	missense variant	C/T	snv			6
rs1555889162	KCNB1 ; LOC105372649	0.882	0.040	20	49374931	missense variant	G/A;C	snv			6
rs775141057	LOC100287944 ; POLR3B	0.882	0.120	12	106496115	missense variant	C/A;T	snv	4.0E-06	2.1E-05	6
rs137852763	MRE11	0.851	0.320	11	94476318	missense variant	C/G	snv			6
rs2307441	POLG	0.882	0.080	15	89318595	missense variant	T/C	snv	2.9E-02	2.7E-02	6
rs755221106	CACNA1G	0.851	0.040	17	50617560	missense variant	G/A;T	snv	4.0E-06		7
rs137853066	KCNJ10	0.827	0.320	1	160042339	missense variant	C/G;T	snv	8.0E-06		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