DisGeNET - a database of gene-disease associations

List of associated variants

Hyperactive behavior, C0424295

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
rs25531	SLC6A4 ; LOC105371720	0.581	0.520	17	30237328	upstream gene variant	T/C	snv		0.18	72
rs4291	ACE	0.724	0.400	17	63476833	upstream gene variant	T/A;C	snv			20
rs1800544	ADRA2A	0.790	0.160	10	111076745	upstream gene variant	G/C	snv		0.59	12
rs875989800	SMARCB1	0.732	0.480	22	23833670	inframe deletion	AGA/-	delins			33
rs387907272	MYD88	0.572	0.520	3	38141150	stop lost	T/C	snv	5.2E-05	7.0E-06	73
rs2303380	TTC12	1.000	0.040	11	113329987	splice region variant	G/A	snv	0.61	0.64	2
rs80356726	TARDBP	0.763	0.120	1	11022352	splice acceptor variant	G/A	snv	4.0E-06		12
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs1566785444	IRF2BPL	0.827	0.200	14	77025671	frameshift variant	C/-	delins			20
rs587776625	ADGRG1	0.851	0.080	16	57654103	frameshift variant	CAGGACC/-	delins			12
rs606231193	PQBP1	0.925	0.080	X	48902391	frameshift variant	AGAG/-;AG;AGAGAG	delins			6
rs879253767	SCN2A	0.882	0.080	2	165313738	frameshift variant	T/-	delins			6
rs27072	SLC6A3	0.807	0.120	5	1394407	3 prime UTR variant	C/A;T	snv			11
rs3746544	SNAP25 ; SNAP25-AS1	0.790	0.120	20	10306436	3 prime UTR variant	G/T	snv		0.68	10
rs28363170	SLC6A3	0.827	0.120	5	1393745	3 prime UTR variant	-/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC	delins		8.1E-06	7
rs6191	NR3C1	0.925	0.040	5	143278591	3 prime UTR variant	C/A	snv		0.48	4
rs6278	DRD2	1.000	0.080	11	113410002	3 prime UTR variant	C/A	snv		0.14	2
rs1170695	SLC6A1 ; SLC6A1-AS1	1.000	0.040	3	11013652	5 prime UTR variant	A/G	snv		0.35	2
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs6313	HTR2A	0.562	0.640	13	46895805	synonymous variant	G/A	snv	0.41	0.40	82
rs6296	HTR1B ; LOC105377864	0.732	0.160	6	77462543	synonymous variant	C/G	snv	0.31	0.27	23
rs5569	SLC6A2	0.742	0.280	16	55697923	synonymous variant	G/A;C	snv	0.31; 4.0E-06		19
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480