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
rs58332872	NEFL	0.882	0.080	8	24956248	missense variant	C/T	snv			5
rs1553878395	SEPSECS	0.925	0.080	4	25127263	splice acceptor variant	AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/-	delins			5
rs121918358	SPG7	0.882	0.160	16	89510539	stop gained	T/A	snv	4.2E-04	1.8E-04	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
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
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
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
rs755221106	CACNA1G	0.851	0.040	17	50617560	missense variant	G/A;T	snv	4.0E-06		7
rs1553281318	COQ8A	0.882	0.120	1	226986536	frameshift variant	-/A	delins			7
rs672601362	KIF1A	0.851	0.080	2	240789246	missense variant	G/A	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
rs121918544	TINF2	0.827	0.200	14	24240635	missense variant	C/T	snv			7
rs28933383	KCNA1	0.851	0.120	12	4912055	missense variant	C/A;G;T	snv			8
rs138249161	POLR3B	0.827	0.240	12	106432421	missense variant	T/A	snv	2.7E-04	3.0E-04	8
rs11538758	PRNP	0.882	0.160	20	4699534	missense variant	C/A;T	snv			8
rs121908217	CACNA1A	0.851	0.120	19	13308452	missense variant	C/T	snv	4.0E-06		9
rs58982919	NEFL	0.790	0.080	8	24956223	missense variant	T/C	snv			10
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