DisGeNET - a database of gene-disease associations

List of associated variants

Abnormal involuntary movement, C0392702

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
rs6313	HTR2A	0.562	0.640	13	46895805	synonymous variant	G/A	snv	0.41	0.40	82
rs6280	DRD3	0.602	0.520	3	114171968	missense variant	C/T	snv	0.63	0.54	57
rs953038635	SOD2	0.590	0.800	6	159692720	missense variant	G/A;T	snv	8.0E-06		51
rs137852959	MIR103B2 ; PANK2	0.790	0.160	20	3918695	missense variant	G/A	snv	8.7E-05	2.3E-04	9
rs3755557	GSK3B ; LOC107986119	0.807	0.280	3	120096110	non coding transcript exon variant	T/A	snv		0.14	6
rs1231813088	HHEX	0.851	0.160	10	92690015	missense variant	C/T	snv			4
rs1322425552	OTOP2 ; USH1G	0.851	0.160	17	74923048	missense variant	G/A	snv			4
rs145522851	SPTBN2	0.925	0.080	11	66685935	missense variant	C/T	snv	1.0E-04	1.2E-04	4
rs6779828	GSK3B	0.925	0.120	3	120056300	intron variant	C/T	snv		0.28	2
rs945232586	CYP4F3	1.000	0.080	19	15641443	missense variant	G/A	snv			1