DisGeNET - a database of gene-disease associations

List of associated variants

Dysarthria, C0013362

Source: CURATED ×

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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
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs28933385	PRNP	0.695	0.320	20	4699818	missense variant	G/A	snv	4.0E-06		4
rs752298579	TANGO2	0.701	0.480	22	20061538	missense variant	G/A	snv	1.4E-04	7.0E-06	48
rs1345176461	LOC107984638 ; IRF2BPL	0.716	0.240	14	77027231	stop gained	G/A;T	snv	4.3E-06		40
rs61755320	SPG7	0.716	0.520	16	89546737	missense variant	C/T	snv	2.9E-03	3.5E-03	36
rs1564045331	XPA	0.716	0.320	9	97687208	inframe deletion	ATTCTT/-	delins			35
rs778543124	XPA	0.716	0.320	9	97675476	frameshift variant	AGTCTTACGGTACA/-	delins	6.8E-05	6.3E-05	35
rs2516839	USF1	0.732	0.320	1	161043331	5 prime UTR variant	C/T	snv		0.49	1
rs387906686	SCN2A	0.742	0.320	2	165310413	missense variant	C/A;T	snv			23
rs774277300	MRE11	0.742	0.360	11	94447276	stop gained	G/A;C;T	snv	2.8E-05; 4.0E-05; 4.0E-06		17
rs1555817157	ABHD12	0.742	0.280	20	25339320	frameshift variant	TCTTCCTCAGGCG/-	del			16
rs1043679457	ERCC8	0.752	0.400	5	60927745	intron variant	C/A;G;T	snv			33
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs375817528	CAPN1	0.776	0.160	11	65206824	splice region variant	G/A	snv	1.2E-04	1.2E-04	25
rs1555565492	RAI1	0.776	0.160	17	17795417	frameshift variant	-/G	delins			18
rs181109321	TTPA	0.776	0.320	8	63065904	splice region variant	C/A;T	snv	2.0E-05		15
rs727502818	KCNC1	0.790	0.160	11	17772053	missense variant	G/A	snv			20
rs1057518813	ERCC5 ; BIVM-ERCC5	0.790	0.240	13	102873305	frameshift variant	CT/-	delins			8
rs74315403	PRNP	0.790	0.200	20	4699752	missense variant	G/A	snv			3
rs121918097	TTR	0.790	0.280	18	31595137	missense variant	G/A	snv			2
rs1555507479	GNAO1	0.807	0.160	16	56336799	missense variant	C/A	snv			12
rs1553630279	CTNNB1	0.807	0.160	3	41225049	stop gained	C/T	snv			7
rs748787734	TUBB4A	0.827	0.240	19	6495437	missense variant	G/A;C	snv	1.2E-05		13
rs768823392	SPG7	0.827	0.120	16	89546657	coding sequence variant	GGCGGGAGA/-	delins	2.6E-04	4.2E-04	10
rs782316919	SURF1	0.827	0.160	9	133351970	frameshift variant	AG/-	delins		8.4E-05	9