DisGeNET - a database of gene-disease associations

List of associated variants

Tardive Dyskinesia, C0686347

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
rs1322643228	TXNRD1	0.807	0.280	12	104321110	missense variant	C/T	snv		7.1E-06	6
rs1330075052	TXNRD1	0.882	0.160	12	104215828	missense variant	T/C	snv		1.4E-05	3
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs953038635	SOD2	0.590	0.800	6	159692720	missense variant	G/A;T	snv	8.0E-06		51
rs781598341	SOD2	0.827	0.240	6	159682510	missense variant	T/C	snv	4.0E-06		5
rs2015586	SLC18A2	0.925	0.120	10	117262226	intron variant	C/T	snv		0.58	2
rs363224	SLC18A2	0.925	0.120	10	117263062	intron variant	C/A	snv		0.48	2
rs37364	PRLR	0.925	0.120	5	35072278	intron variant	T/G	snv		0.34	2
rs10828317	PIP4K2A	0.776	0.280	10	22550699	missense variant	T/C	snv			9
rs2230469	PIP4K2A	0.882	0.160	10	22550699	missense variant	T/C	snv	0.27	0.24	3
rs1338719	PDE4B	0.925	0.120	1	66183851	intron variant	C/T	snv		0.49	2
rs1890196	PDE4B	0.925	0.120	1	66337397	intron variant	C/G;T	snv			2
rs7528545	PDE4B	0.925	0.120	1	66227081	intron variant	T/C	snv		0.62	2
rs783036	PDE4B	0.925	0.120	1	66365687	synonymous variant	G/A	snv	0.48	0.56	2
rs1322425552	OTOP2 ; USH1G	0.851	0.160	17	74923048	missense variant	G/A	snv			4
rs2603751	NR4A1	0.925	0.120	12	52059498	3 prime UTR variant	T/C	snv		0.25	2
rs2701124	NR4A1	0.925	0.120	12	52054373	synonymous variant	G/A;C	snv	9.5E-02		2
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs1258159645	NQO1	0.630	0.600	16	69711128	missense variant	G/A	snv		7.0E-06	37
rs1182593032	NQO1	0.851	0.200	16	69718516	missense variant	A/G	snv			4
rs76980269	NOS1	0.763	0.280	12	117330794	synonymous variant	G/A	snv	2.8E-05	4.2E-05	10
rs1065852	NDUFA6-DT ; LOC112268294 ; CYP2D6	0.695	0.360	22	42130692	missense variant	G/A	snv	0.21	0.19	19
rs1457049406	MIR4761 ; COMT	0.851	0.200	22	19962555	missense variant	C/T	snv			4
rs1447119000	LOC112268294 ; CYP2D6 ; NDUFA6-DT	0.925	0.120	22	42130763	missense variant	G/A	snv			2
rs334558	LOC107986119 ; GSK3B	0.701	0.320	3	120094435	upstream gene variant	A/G	snv		0.51	20