DisGeNET - a database of gene-disease associations

List of associated variants

Cerebellar Ataxia, C0007758

Source: CLINVAR ×

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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
rs80356713	ABCB7	0.925	0.120	X	75070499	missense variant	C/A;G	snv			1
rs267606695	CA8	1.000	0.160	8	60266044	missense variant	A/C;G	snv			1
rs121908214	CACNA1A	0.925	0.080	19	13230185	missense variant	T/G	snv			1
rs121908230	CACNA1A	0.882	0.080	19	13262789	missense variant	C/T	snv			1
rs771578775	COQ8A	1.000	0.080	1	226982996	stop gained	C/T	snv	4.5E-05	5.6E-05	1
rs104894107	FXN	0.882	0.160	9	69064942	missense variant	G/C;T	snv	3.6E-05; 2.8E-05		1
rs118204095	HMBS	1.000	0.160	11	119091414	missense variant	G/A;T	snv	4.5E-05		1
rs118204096	HMBS	1.000	0.160	11	119091432	missense variant	G/A	snv			1
rs587777004	HNRNPU ; COX20	1.000	0.080	1	244842055	missense variant	A/C;G	snv	4.0E-06		1
rs28933381	KCNA1	0.925	0.080	12	4912102	missense variant	G/C	snv			1
rs104894699	KCNC3	0.925	0.120	19	50323694	missense variant	C/T	snv			1
rs137852763	MRE11	0.851	0.320	11	94476318	missense variant	C/G	snv			1
rs121918514	PRKCG	0.925	0.080	19	53889705	missense variant	G/A	snv			1
rs121918518	PRKCG	1.000	0.080	19	53889655	missense variant	C/G	snv			1
rs397514749	SPTBN2	1.000	0.080	11	66707731	missense variant	G/A	snv			1
rs587777343	STUB1 ; JMJD8	0.925	0.120	16	682232	missense variant	C/T	snv			1
rs79267946	CA8	1.000	0.160	8	60232322	stop gained	T/A;C	snv			2
rs121908225	CACNA1A	0.790	0.120	19	13365448	missense variant	G/A	snv			2
rs755221106	CACNA1G	0.851	0.040	17	50617560	missense variant	G/A;T	snv	4.0E-06		2
rs774214806	GRM1	1.000		6	146159536	stop gained	C/A;T	snv	1.6E-05		2
rs375244209	HSPB1	1.000	0.040	7	76302870	missense variant	G/A	snv	1.1E-05		2
rs28933383	KCNA1	0.851	0.120	12	4912055	missense variant	C/A;G;T	snv			2
rs886041761	KCNA2	0.925	0.200	1	110603902	missense variant	C/T	snv			2
rs143319805	OPA1	0.807	0.320	3	193643378	missense variant	A/G	snv	6.2E-04	5.7E-04	2
rs11538758	PRNP	0.882	0.160	20	4699534	missense variant	C/A;T	snv			2