DisGeNET - a database of gene-disease associations

List of associated variants

Dyskinetic syndrome, C0013384

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
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs953038635	SOD2	0.590	0.800	6	159692720	missense variant	G/A;T	snv	8.0E-06		51
rs6318	HTR2C ; LOC105373313	0.623	0.520	X	114731326	missense variant	C/G;T	snv			42
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
rs1043210477	GPX1	0.701	0.520	3	49358250	missense variant	G/A	snv			19
rs267606670	ATP1A3	0.790	0.320	19	41968837	missense variant	C/A;T	snv			19
rs995922697	GPX1	0.724	0.560	3	49357413	missense variant	A/G	snv	4.1E-06		15
rs1569151872	TSPEAR-AS1 ; TSPEAR	0.851	0.240	21	44509225	frameshift variant	GAC/AA	delins			14
rs864309483	ADCY5	0.851	0.080	3	123352464	missense variant	G/A	snv			9
rs628031	SLC22A1	0.807	0.280	6	160139813	missense variant	A/C;G	snv	5.3E-05; 0.63		8
rs1799836	MAOB	0.790	0.160	X	43768752	intron variant	T/A;C	snv	0.43		7
rs35801418	LRRK2	0.827	0.120	12	40321114	missense variant	A/G	snv			7
rs56984562	LMNA	0.827	0.200	1	156137666	missense variant	C/A;G;T	snv			6
rs1064794533	GNAO1	0.882	0.080	16	56336846	missense variant	G/A	snv			4
rs1563945076	APTX	0.925	0.160	9	32974556	frameshift variant	A/-	del			4
rs752513525	NDUFA13	0.882	0.120	19	19526257	missense variant	G/A;T	snv	2.4E-05		3
rs2293054	NOS1	0.925	0.080	12	117263909	synonymous variant	A/G;T	snv	0.69; 4.0E-06		2
rs1267306614	DRD3	1.000	0.080	3	114171850	missense variant	C/G	snv			1
rs1345423	GRIN2A	1.000	0.080	16	10154207	intron variant	G/A;C;T	snv			1
rs387907128	LOC112268170 ; PRRT2	0.925	0.080	16	29813850	missense variant	C/T	snv	4.0E-06	7.0E-06	2
rs28363170	SLC6A3	0.827	0.120	5	1393745	3 prime UTR variant	-/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC	delins		8.1E-06	7
rs74315442	CSTB	0.851	0.200	21	43774297	stop gained	G/A	snv	4.0E-05	2.1E-05	10
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34