DisGeNET - a database of gene-disease associations

List of associated variants

Dysarthria, C0013362

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 GENOME	Num. diseases
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv		46
rs1564045331	XPA	0.716	0.320	9	97687208	inframe deletion	ATTCTT/-	delins		35
rs1043679457	ERCC8	0.752	0.400	5	60927745	intron variant	C/A;G;T	snv		33
rs727502818	KCNC1	0.790	0.160	11	17772053	missense variant	G/A	snv		26
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv		23
rs387906686	SCN2A	0.742	0.320	2	165310413	missense variant	C/A;T	snv		23
rs1555565492	RAI1	0.776	0.160	17	17795417	frameshift variant	-/G	delins		18
rs1555817157	ABHD12	0.742	0.280	20	25339320	frameshift variant	TCTTCCTCAGGCG/-	del		16
rs2516839	USF1	0.732	0.320	1	161043331	5 prime UTR variant	C/T	snv	0.49	14
rs1555507479	GNAO1	0.807	0.160	16	56336799	missense variant	C/A	snv		12
rs1217391623	SPG7	0.882	0.160	16	89556976	frameshift variant	G/-	del	7.0E-06	11
rs121918097	TTR	0.790	0.280	18	31595137	missense variant	G/A	snv		10
rs74315403	PRNP	0.790	0.200	20	4699752	missense variant	G/A	snv		10
rs1561904557	CSF1R	0.851	0.160	5	150056050	missense variant	GGAT/TGCC	mnv		9
rs782316919	SURF1	0.827	0.160	9	133351970	frameshift variant	AG/-	delins	8.4E-05	9
rs864309483	ADCY5	0.851	0.080	3	123352464	missense variant	G/A	snv		9
rs1057518813	ERCC5 ; BIVM-ERCC5	0.790	0.240	13	102873305	frameshift variant	CT/-	delins		8
rs1553630279	CTNNB1	0.807	0.160	3	41225049	stop gained	C/T	snv		7
rs1555475794	JMJD8 ; STUB1	0.925	0.120	16	682729	3 prime UTR variant	T/C	snv		7
rs1114167423	APTX	0.882	0.240	9	32984704	stop gained	T/A	snv		6
rs1561515242	CAMK4	1.000	0.080	5	111482938	splice donor variant	G/A	snv		6
rs1553878395	SEPSECS	0.925	0.080	4	25127263	splice acceptor variant	AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/-	delins		5
rs63750009	PSEN1	0.851	0.120	14	73192760	missense variant	A/C;G	snv		5
rs869312880	REEP1	0.882	0.120	2	86232624	splice donor variant	C/T	snv		5
rs879253797	SPG7	0.882	0.160	16	89556954	missense variant	C/T	snv	1.4E-05	5