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 EXOME	AF GENOME	Num. diseases
rs2516839	USF1	0.732	0.320	1	161043331	5 prime UTR variant	C/T	snv		0.49	14
rs374263073	LAMC2	0.925	0.120	1	183222116	missense variant	G/A;T	snv	1.2E-05		3
rs387906686	SCN2A	0.742	0.320	2	165310413	missense variant	C/A;T	snv			23
rs869312880	REEP1	0.882	0.120	2	86232624	splice donor variant	C/T	snv			5
rs864309483	ADCY5	0.851	0.080	3	123352464	missense variant	G/A	snv			9
rs1553630279	CTNNB1	0.807	0.160	3	41225049	stop gained	C/T	snv			7
rs1553878395	SEPSECS	0.925	0.080	4	25127263	splice acceptor variant	AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/-	delins			5
rs1043679457	ERCC8	0.752	0.400	5	60927745	intron variant	C/A;G;T	snv			33
rs1561904557	CSF1R	0.851	0.160	5	150056050	missense variant	GGAT/TGCC	mnv			9
rs1561515242	CAMK4	1.000	0.080	5	111482938	splice donor variant	G/A	snv			6
rs142110773	FIGNL1 ; DDC	0.882	0.160	7	50463317	missense variant	G/A	snv	1.6E-05	7.0E-06	13
rs181109321	TTPA	0.776	0.320	8	63065904	splice region variant	C/A;T	snv	2.0E-05		17
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
rs782316919	SURF1	0.827	0.160	9	133351970	frameshift variant	AG/-	delins		8.4E-05	9
rs104894107	FXN	0.882	0.160	9	69064942	missense variant	G/C;T	snv	3.6E-05; 2.8E-05		6
rs1114167423	APTX	0.882	0.240	9	32984704	stop gained	T/A	snv			6
rs142157346	FXN	0.882	0.160	9	69053240	missense variant	G/T	snv			4
rs781934508	SURF1	1.000	0.080	9	133352441	splice region variant	C/A;T	snv	2.4E-05		4
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs727502818	KCNC1	0.790	0.160	11	17772053	missense variant	G/A	snv			26
rs375817528	CAPN1	0.776	0.160	11	65206824	splice region variant	G/A	snv	1.2E-04	1.2E-04	25
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
rs771744744	SMUG1	0.925	0.120	12	54182241	missense variant	C/T	snv	8.0E-06		3
rs1057518813	ERCC5 ; BIVM-ERCC5	0.790	0.240	13	102873305	frameshift variant	CT/-	delins			8