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
rs121908225	CACNA1A	0.790	0.120	19	13365448	missense variant	G/A	snv			12
rs143319805	OPA1	0.807	0.320	3	193643378	missense variant	A/G	snv	6.2E-04	5.7E-04	12
rs1554904159	BRSK2 ; LOC107984298	0.851	0.160	11	1442607	splice donor variant	G/A	snv			11
rs1057520918	CACNA1A	0.790	0.160	19	13262780	missense variant	C/T	snv			11
rs767181086	LAMC2	0.827	0.240	1	183220922	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		11
rs121918100	TTR	0.827	0.160	18	31595184	missense variant	T/C	snv			11
rs869312702	CIZ1 ; DNM1	0.827	0.160	9	128203609	missense variant	G/A	snv			10
rs58982919	NEFL	0.790	0.080	8	24956223	missense variant	T/C	snv			10
rs121908217	CACNA1A	0.851	0.120	19	13308452	missense variant	C/T	snv	4.0E-06		9
rs782316919	SURF1	0.827	0.160	9	133351970	frameshift variant	AG/-	delins		8.4E-05	9
rs374997012	TWNK ; MRPL43	0.851	0.280	10	100989114	missense variant	C/T	snv	8.0E-06	7.0E-06	9
rs886037832	TWNK ; MRPL43	0.851	0.280	10	100988541	frameshift variant	T/-	delins			9
rs28933383	KCNA1	0.851	0.120	12	4912055	missense variant	C/A;G;T	snv			8
rs80358257	NPC1	0.827	0.280	18	23538564	missense variant	G/C	snv	1.2E-04	2.1E-04	8
rs11538758	PRNP	0.882	0.160	20	4699534	missense variant	C/A;T	snv			8
rs267607116	TMEM67	0.851	0.160	8	93808861	missense variant	G/A;C	snv			8
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
rs74315402	PRNP	0.882	0.200	20	4699570	missense variant	C/T	snv			7
rs120074125	SMPD1	0.882	0.160	11	6393301	missense variant	T/G	snv	4.0E-06		7