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
rs121917763	TH	0.925	0.040	11	2167896	missense variant	A/G	snv	1.2E-05	7.0E-06	5
rs546151500	ZNF142	0.925	0.080	2	218643341	stop gained	G/A;T	snv	8.0E-06; 4.0E-06		5
rs1561515242	CAMK4	1.000	0.080	5	111482938	splice donor variant	G/A	snv			6
rs3842225	TOR1A	0.882	0.120	9	129813148	3 prime UTR variant	C/-	del		0.16	6
rs727502811	TOR1A	0.882	0.080	9	129814108	missense variant	C/T	snv	9.1E-05	6.3E-05	6
rs104894003	ACTB	0.827	0.320	7	5528536	missense variant	G/A	snv			7
rs11655081	ARSG	0.851	0.080	17	68386068	intron variant	T/C	snv		0.18	7
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
rs1135401746	GNB1	0.827	0.400	1	1806512	missense variant	C/G	snv			7
rs878853161	SLC2A1	0.851	0.240	1	42929977	frameshift variant	AT/-	del			7
rs1801968	TOR1A	0.827	0.040	9	129818622	missense variant	C/G;T	snv	0.13; 4.0E-06		7
rs34015634	LRRK2	0.851	0.120	12	40340380	missense variant	T/C	snv	3.2E-05	1.4E-05	8
rs80358259	NPC1	0.851	0.320	18	23536736	missense variant	A/G	snv	2.0E-04	2.4E-04	9
rs869025222	RARB	0.827	0.240	3	25580574	missense variant	T/C	snv			9
rs1182	TOR1A	0.790	0.160	9	129813781	3 prime UTR variant	C/A	snv		0.17	9
rs74315442	CSTB	0.851	0.200	21	43774297	stop gained	G/A	snv	4.0E-05	2.1E-05	10
rs1554504663	RHOBTB2	0.851	0.080	8	23007627	missense variant	G/A	snv			11
rs1555507479	GNAO1	0.807	0.160	16	56336799	missense variant	C/A	snv			12
rs1131692231	CYFIP2	0.827	0.280	5	157294834	missense variant	C/T	snv			13
rs748787734	TUBB4A	0.827	0.240	19	6495437	missense variant	G/A;C	snv	1.2E-05		13
rs1555582065	UBTF ; LOC101926967	0.827	0.160	17	44212851	missense variant	C/T	snv			13
rs1247665387	FA2H	0.807	0.360	16	74774623	missense variant	C/A	snv		7.0E-06	14
rs139455627	TSPEAR	0.851	0.240	21	44531087	stop gained	G/A	snv	3.2E-04	2.7E-04	14
rs1569151872	TSPEAR-AS1 ; TSPEAR	0.851	0.240	21	44509225	frameshift variant	GAC/AA	delins			14