DisGeNET - a database of gene-disease associations

List of associated variants

Ataxia, C0004134

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
rs1553281318	COQ8A	0.882	0.120	1	226986536	frameshift variant	-/A	delins			7
rs730882209	SETX	0.925	0.080	9	132326375	frameshift variant	-/C	delins			6
rs730882198	SPART	0.851	0.200	13	36314259	frameshift variant	-/T	delins	1.2E-05		6
rs267606695	CA8	1.000	0.160	8	60266044	missense variant	A/C;G	snv			5
rs587777004	HNRNPU ; COX20	1.000	0.080	1	244842055	missense variant	A/C;G	snv	4.0E-06		3
rs876661219	GRIN2B	1.000		12	13571891	missense variant	A/C;G	snv			2
rs143319805	OPA1	0.807	0.320	3	193643378	missense variant	A/G	snv	6.2E-04	5.7E-04	12
rs1208917022	ATN1	1.000	0.040	12	6936663	missense variant	A/G	snv			3
rs1424215334	SLC3A1	1.000	0.120	2	44280805	missense variant	A/G	snv		2.1E-05	3
rs1553878395	SEPSECS	0.925	0.080	4	25127263	splice acceptor variant	AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/-	delins			5
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs28933383	KCNA1	0.851	0.120	12	4912055	missense variant	C/A;G;T	snv			8
rs267606670	ATP1A3	0.790	0.320	19	41968837	missense variant	C/A;T	snv			19
rs181109321	TTPA	0.776	0.320	8	63065904	splice region variant	C/A;T	snv	2.0E-05		17
rs11538758	PRNP	0.882	0.160	20	4699534	missense variant	C/A;T	snv			8
rs1335702493	APTX	0.925	0.200	9	32973507	stop gained	C/A;T	snv			4
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	22
rs137852763	MRE11	0.851	0.320	11	94476318	missense variant	C/G	snv			6
rs121918518	PRKCG	1.000	0.080	19	53889655	missense variant	C/G	snv			3
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			15
rs61755320	SPG7	0.716	0.520	16	89546737	missense variant	C/T	snv	2.9E-03	3.5E-03	41
rs74315401	PRNP	0.683	0.320	20	4699525	missense variant	C/T	snv			32
rs113994095	POLG ; MIR6766	0.701	0.360	15	89327201	missense variant	C/T	snv	5.1E-04	6.7E-04	31
rs606231435	ATP1A3	0.827	0.240	19	41970539	missense variant	C/T	snv			18
rs1057520918	CACNA1A	0.790	0.160	19	13262780	missense variant	C/T	snv			11