DisGeNET - a database of gene-disease associations

List of associated variants

Cerebellar Ataxia, C0007758

Source: ALL

Results per page

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
rs886037832	TWNK ; MRPL43	0.851	0.280	10	100988541	frameshift variant	T/-	delins			9
rs754081544	MRPL43 ; TWNK	0.925	0.080	10	100988947	missense variant	A/G	snv	1.6E-05	7.0E-06	5
rs374997012	TWNK ; MRPL43	0.851	0.280	10	100989114	missense variant	C/T	snv	8.0E-06	7.0E-06	9
rs775141057	LOC100287944 ; POLR3B	0.882	0.120	12	106496115	missense variant	C/A;T	snv	4.0E-06	2.1E-05	6
rs1057518965	ATM	0.882	0.320	11	108244812	frameshift variant	A/-	delins			5
rs886041761	KCNA2	0.925	0.200	1	110603902	missense variant	C/T	snv			6
rs1561515242	CAMK4	1.000	0.080	5	111482938	splice donor variant	G/A	snv			6
rs118204095	HMBS	1.000	0.160	11	119091414	missense variant	G/A;T	snv	4.5E-05		3
rs118204096	HMBS	1.000	0.160	11	119091432	missense variant	G/A	snv			3
rs1565339091	LOC107984406 ; HEPACAM	1.000	0.200	11	124924796	missense variant	T/C	snv			4
rs869312702	CIZ1 ; DNM1	0.827	0.160	9	128203609	missense variant	G/A	snv			10
rs145465528	LAMA2	0.882	0.240	6	129143976	missense variant	C/T	snv	6.0E-05	9.1E-05	7
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs1568440440	CACNA1A	0.925	0.120	19	13228767	stop gained	GT/-	delins			3
rs770684782	SETX			9	132288268	stop gained	G/A	snv	4.0E-06		3
rs121908214	CACNA1A	0.925	0.080	19	13230185	missense variant	T/G	snv			4
rs750959420	SETX	1.000	0.080	9	132311820	frameshift variant	CTCT/-;CT	delins	4.0E-06; 2.4E-05	3.5E-05	2
rs267607044	SETX	1.000	0.080	9	132327718	missense variant	G/A	snv	8.0E-06	2.1E-05	3
rs121908224	CACNA1A	1.000	0.080	19	13235262	missense variant	C/T	snv			2
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			15
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs1057520918	CACNA1A	0.790	0.160	19	13262780	missense variant	C/T	snv			11
rs121908230	CACNA1A	0.882	0.080	19	13262789	missense variant	C/T	snv			5
rs121908212	CACNA1A	0.732	0.160	19	13303877	missense variant	G/A	snv			14
rs121908217	CACNA1A	0.851	0.120	19	13308452	missense variant	C/T	snv	4.0E-06		9