DisGeNET - a database of gene-disease associations

List of associated variants

Hyperactive behavior, C0424295

Source: ALL

Results per page

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
rs387906846	ARID1A	0.807	0.280	1	26773716	stop gained	C/G;T	snv			19
rs5569	SLC6A2	0.742	0.280	16	55697923	synonymous variant	G/A;C	snv	0.31; 4.0E-06		19
rs63750215	PSEN2	0.701	0.240	1	226885603	missense variant	A/T	snv			19
rs324981	NPSR1-AS1 ; NPSR1	0.724	0.320	7	34778501	missense variant	A/T	snv	0.44	0.47	18
rs80356537	ATP1A3	0.752	0.320	19	41970405	missense variant	C/A;G;T	snv			17
rs63751438	MAPT	0.776	0.120	17	46010388	missense variant	C/T	snv			16
rs529855742	SGSH	0.827	0.320	17	80214291	missense variant	G/A	snv	1.2E-05	1.4E-05	15
rs74315431	VAPB	0.732	0.080	20	58418318	missense variant	C/T	snv	4.0E-06		15
rs33980500	TRAF3IP2-AS1 ; TRAF3IP2	0.742	0.200	6	111592059	missense variant	C/T	snv	8.6E-02	9.7E-02	14
rs61751362	MECP2	0.790	0.160	X	154030948	stop gained	G/A;C	snv	1.6E-05		14
rs121913470	ERBB2	0.776	0.200	17	39723967	missense variant	T/C;G	snv			13
rs1555582065	UBTF ; LOC101926967	0.827	0.160	17	44212851	missense variant	C/T	snv			13
rs771138120	CDKN2A	0.827	0.120	9	21971191	missense variant	G/A;C;T	snv	9.1E-06; 4.5E-06		13
rs1800544	ADRA2A	0.790	0.160	10	111076745	upstream gene variant	G/C	snv		0.59	12
rs2283265	DRD2	0.776	0.160	11	113414814	intron variant	C/A	snv		0.16	12
rs80356726	TARDBP	0.763	0.120	1	11022352	splice acceptor variant	G/A	snv	4.0E-06		12
rs1231783932	APP	0.763	0.120	21	26051171	missense variant	T/A;C	snv	1.2E-05		11
rs27072	SLC6A3	0.807	0.120	5	1394407	3 prime UTR variant	C/A;T	snv			11
rs75634836	HTR2A	0.807	0.160	13	46835532	missense variant	C/A;T	snv	4.0E-06		11
rs1057518644	HGSNAT	0.925	0.120	8	43192413	stop gained	C/T	snv			10
rs1481318368	TH	0.827	0.120	11	2169802	missense variant	C/T	snv			10
rs28934897	MVK	0.790	0.400	12	109596515	missense variant	G/A	snv	1.6E-03	1.5E-03	10
rs3746544	SNAP25 ; SNAP25-AS1	0.790	0.120	20	10306436	3 prime UTR variant	G/T	snv		0.68	10
rs121912678	ACVR1	0.851	0.080	2	157774114	missense variant	C/G;T	snv			8
rs206936	RPS10-NUDT3 ; NUDT3	0.882	0.160	6	34335092	intron variant	A/G	snv		0.34	8