DisGeNET - a database of gene-disease associations

List of associated variants

Attention deficit hyperactivity disorder, C1263846

Source: CLINVAR ×

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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
rs80359636	BRCA2	0.851	0.240	13	32354921	frameshift variant	CT/-	delins		2.8E-05	7
rs1135402760	BRSK2	0.851	0.160	11	1451405	frameshift variant	AG/-	delins			6
rs730882197	C12orf4	0.925	0.040	12	4525342	frameshift variant	-/GTTT	delins			4
rs1114167293	C12orf57	0.807	0.320	12	6944474	splice acceptor variant	A/G	snv	4.0E-06		7
rs121909323	CACNA1A	0.790	0.160	19	13277122	stop gained	G/A	snv			8
rs121908216	CACNA1A	0.882	0.200	19	13235702	missense variant	C/T	snv			7
rs786200963	CACNA1A	0.827	0.200	19	13371683	splice region variant	C/T	snv			6
rs5742905	CBS	0.701	0.360	21	43063074	missense variant	A/G	snv			4
rs1057519438	CDK20	0.925	0.080	9	87969919	stop gained	C/G;T	snv	4.9E-06		4
rs121912777	CES1	0.851	0.080	16	55823661	missense variant	C/A;G;T	snv	4.8E-05; 1.2E-05; 8.0E-06		1
rs140630794	CHAF1B	0.925	0.040	21	36397429	missense variant	A/C;G	snv	1.3E-05; 4.2E-06		3
rs869312705	CHD2	0.882	0.080	15	92953405	frameshift variant	C/-	delins			3
rs7794745	CNTNAP2	0.851	0.040	7	146792514	intron variant	A/T	snv		0.49	1
rs199821421	CREBBP	0.827	0.160	16	3728723	stop gained	G/A;T	snv	5.2E-05		6
rs1131691299	DDX3X	0.882	0.160	X	41341587	frameshift variant	C/-	del			9
rs1057518083	DYNC1H1	0.851	0.120	14	101986552	missense variant	C/T	snv			21
rs1564691414	FAS	0.925	0.160	10	89007698	splice acceptor variant	A/G	snv			7
rs137853265	FGD1	0.925	0.200	X	54467901	missense variant	C/T	snv	7.9E-06	9.5E-06	1
rs1360780	FKBP5 ; LOC112267956	0.708	0.320	6	35639794	intron variant	T/A;C	snv			1
rs104894396	GJB2	0.672	0.400	13	20189511	stop gained	C/T	snv	5.8E-04	1.1E-04	21
rs137854539	GNAS	0.716	0.520	20	58903703	missense variant	C/T	snv			27
rs761399728	GNB5	0.851	0.040	15	52153947	missense variant	G/A	snv	5.6E-05	7.0E-06	6
rs776300630	HIVEP1	0.925	0.080	6	12123884	missense variant	G/C;T	snv	8.0E-06		4
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13