DisGeNET - a database of gene-disease associations

List of associated variants

Dystonia, C0013421

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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs104894003	ACTB	0.827	0.320	7	5528536	missense variant	G/A	snv			7
rs796065306	ADCY5	1.000	0.080	3	123319754	missense variant	C/T	snv			4
rs864309484	ADCY5	1.000	0.080	3	123291354	missense variant	A/T	snv			4
rs760743322	APP	1.000	0.040	21	25975997	missense variant	T/C	snv	4.0E-06		4
rs11655081	ARSG	0.851	0.080	17	68386068	intron variant	T/C	snv		0.18	7
rs267606670	ATP1A3	0.790	0.320	19	41968837	missense variant	C/A;T	snv			19
rs80356537	ATP1A3	0.752	0.320	19	41970405	missense variant	C/A;G;T	snv			17
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs146170087	C19orf12	0.925	0.040	19	29702747	missense variant	T/C	snv	2.3E-03	1.1E-03	7
rs515726205	C19orf12	0.882	0.040	19	29702966	missense variant	C/T	snv	2.4E-05	1.4E-05	7
rs397514477	C19orf12	0.925	0.080	19	29708415	missense variant	G/A	snv	8.0E-06	2.8E-05	5
rs267606695	CA8	1.000	0.160	8	60266044	missense variant	A/C;G	snv			5
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
rs1561515242	CAMK4	1.000	0.080	5	111482938	splice donor variant	G/A	snv			6
rs398122845	CASK	1.000	0.080	X	41524036	splice acceptor variant	T/A;C	snv			2
rs74315442	CSTB	0.851	0.200	21	43774297	stop gained	G/A	snv	4.0E-05	2.1E-05	10
rs1131692231	CYFIP2	0.827	0.280	5	157294834	missense variant	C/T	snv			13
rs879253799	DCAF17	0.882	0.320	2	171443559	frameshift variant	A/-	delins			5
rs150321966	ECHS1	0.925	0.040	10	133366990	missense variant	G/A	snv	2.6E-04	1.3E-04	3
rs754609693	ECHS1	0.925	0.040	10	133366967	missense variant	G/A	snv	1.6E-05	1.4E-05	3
rs113994063	EIF2B5	0.882	0.160	3	184140517	missense variant	C/G;T	snv	1.6E-05	2.8E-05	5
rs1247665387	FA2H	0.807	0.360	16	74774623	missense variant	C/A	snv		7.0E-06	14