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
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs265975		0.925	0.120	5	175435192	downstream gene variant	C/T	snv		0.43	2
rs4532	DRD1	0.827	0.160	5	175443147	5 prime UTR variant	C/T	snv	0.68	0.72	7
rs5326	DRD1	0.851	0.160	5	175443193	5 prime UTR variant	C/T	snv		0.15	6
rs1805054	HTR6	0.708	0.200	1	19666020	synonymous variant	C/T	snv	0.15; 8.0E-06	0.16	17
rs1457049406	MIR4761 ; COMT	0.851	0.200	22	19962555	missense variant	C/T	snv			4
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs165599	ARVCF ; COMT	0.677	0.280	22	19969258	3 prime UTR variant	G/A	snv		0.56	27
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs6587002	GFRA2	0.925	0.120	8	21723708	intron variant	T/C;G	snv			2
rs4739217	GFRA2	0.925	0.120	8	21727549	intron variant	G/C	snv		0.39	2
rs6988470	GFRA2	0.925	0.120	8	21742957	intron variant	T/C	snv		0.58	2
rs2445142	HSPG2	0.925	0.120	1	21899250	intron variant	G/A;C	snv			2
rs878949	HSPG2	0.925	0.120	1	21900598	intron variant	T/C	snv		0.52	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
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs1402139464	BDNF	0.882	0.160	11	27701009	5 prime UTR variant	G/A;T	snv	8.4E-06		3
rs37364	PRLR	0.925	0.120	5	35072278	intron variant	T/G	snv		0.34	2
rs1065852	NDUFA6-DT ; LOC112268294 ; CYP2D6	0.695	0.360	22	42130692	missense variant	G/A	snv	0.21	0.19	19
rs1447119000	LOC112268294 ; CYP2D6 ; NDUFA6-DT	0.925	0.120	22	42130763	missense variant	G/A	snv			2
rs6314	HTR2A	0.677	0.360	13	46834899	missense variant	G/A	snv	7.9E-02	9.5E-02	23
rs6313	HTR2A	0.562	0.640	13	46895805	synonymous variant	G/A	snv	0.41	0.40	82
rs1045280	ARRB2	0.882	0.160	17	4719343	synonymous variant	C/T	snv	0.71	0.62	3