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
rs181109321	TTPA	0.776	0.320	8	63065904	splice region variant	C/A;T	snv	2.0E-05		17
rs1553878395	SEPSECS	0.925	0.080	4	25127263	splice acceptor variant	AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/-	delins			5
rs1135401778	BPTF	0.752	0.400	17	67854315	frameshift variant	T/-	del			20
rs1553281318	COQ8A	0.882	0.120	1	226986536	frameshift variant	-/A	delins			7
rs730882198	SPART	0.851	0.200	13	36314259	frameshift variant	-/T	delins	1.2E-05		6
rs730882209	SETX	0.925	0.080	9	132326375	frameshift variant	-/C	delins			6
rs3512	FAN1 ; MTMR10	0.925	0.160	15	30942802	3 prime UTR variant	G/C	snv		0.27	4
rs752298579	TANGO2	0.701	0.480	22	20061538	missense variant	G/A	snv	1.4E-04	7.0E-06	48
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
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
rs727502818	KCNC1	0.790	0.160	11	17772053	missense variant	G/A	snv			26
rs28933385	PRNP	0.695	0.320	20	4699818	missense variant	G/A	snv	4.0E-06		25
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	22
rs267606670	ATP1A3	0.790	0.320	19	41968837	missense variant	C/A;T	snv			19
rs199476133	ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6	0.742	0.320	MT	8993	missense variant	T/C;G	snv			18
rs606231435	ATP1A3	0.827	0.240	19	41970539	missense variant	C/T	snv			18
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			15
rs121908212	CACNA1A	0.732	0.160	19	13303877	missense variant	G/A	snv			14
rs672601370	KIF1A	0.790	0.160	2	240775863	missense variant	G/A	snv			13
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
rs1057520918	CACNA1A	0.790	0.160	19	13262780	missense variant	C/T	snv			11
rs121918100	TTR	0.827	0.160	18	31595184	missense variant	T/C	snv			11