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
rs886041761	KCNA2	0.925	0.200	1	110603902	missense variant	C/T	snv			6
rs727502818	KCNC1	0.790	0.160	11	17772053	missense variant	G/A	snv			26
rs104894699	KCNC3	0.925	0.120	19	50323694	missense variant	C/T	snv			4
rs672601370	KIF1A	0.790	0.160	2	240775863	missense variant	G/A	snv			13
rs672601362	KIF1A	0.851	0.080	2	240789246	missense variant	G/A	snv			7
rs767181086	LAMC2	0.827	0.240	1	183220922	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		11
rs137852763	MRE11	0.851	0.320	11	94476318	missense variant	C/G	snv			6
rs199476133	ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6	0.742	0.320	MT	8993	missense variant	T/C;G	snv			18
rs58982919	NEFL	0.790	0.080	8	24956223	missense variant	T/C	snv			10
rs58332872	NEFL	0.882	0.080	8	24956248	missense variant	C/T	snv			5
rs143319805	OPA1	0.807	0.320	3	193643378	missense variant	A/G	snv	6.2E-04	5.7E-04	12
rs113994097	POLG	0.724	0.400	15	89323426	missense variant	C/G	snv	9.7E-04	7.9E-04	22
rs2307441	POLG	0.882	0.080	15	89318595	missense variant	T/C	snv	2.9E-02	2.7E-02	6
rs113994095	POLG ; MIR6766	0.701	0.360	15	89327201	missense variant	C/T	snv	5.1E-04	6.7E-04	31
rs138249161	POLR3B	0.827	0.240	12	106432421	missense variant	T/A	snv	2.7E-04	3.0E-04	8
rs121918514	PRKCG	0.925	0.080	19	53889705	missense variant	G/A	snv			4
rs121918518	PRKCG	1.000	0.080	19	53889655	missense variant	C/G	snv			3
rs74315401	PRNP	0.683	0.320	20	4699525	missense variant	C/T	snv			32
rs28933385	PRNP	0.695	0.320	20	4699818	missense variant	G/A	snv	4.0E-06		25
rs11538758	PRNP	0.882	0.160	20	4699534	missense variant	C/A;T	snv			8
rs74315402	PRNP	0.882	0.200	20	4699570	missense variant	C/T	snv			7
rs730882234	PTRH2	0.925		17	59697725	missense variant	T/G	snv			4
rs1553878395	SEPSECS	0.925	0.080	4	25127263	splice acceptor variant	AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/-	delins			5
rs730882209	SETX	0.925	0.080	9	132326375	frameshift variant	-/C	delins			6
rs267607044	SETX	1.000	0.080	9	132327718	missense variant	G/A	snv	8.0E-06	2.1E-05	3