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
rs1564691414	FAS	0.925	0.160	10	89007698	splice acceptor variant	A/G	snv			7
rs1569110700	TCF20	0.925	0.080	22	42179633	missense variant	G/A	snv			5
rs1057519438	CDK20	0.925	0.080	9	87969919	stop gained	C/G;T	snv	4.9E-06		4
rs730882197	C12orf4	0.925	0.040	12	4525342	frameshift variant	-/GTTT	delins			4
rs776300630	HIVEP1	0.925	0.080	6	12123884	missense variant	G/C;T	snv	8.0E-06		4
rs140630794	CHAF1B	0.925	0.040	21	36397429	missense variant	A/C;G	snv	1.3E-05; 4.2E-06		3
rs786205019	MECP2	0.925	0.120	X	154030644	splice acceptor variant	CTCTCGGGCTCAGGTGGAGGT/TGCTCAAGTCCTGGGGCTCAG	mnv			2
rs137853265	FGD1	0.925	0.200	X	54467901	missense variant	C/T	snv	7.9E-06	9.5E-06	1
rs1131691299	DDX3X	0.882	0.160	X	41341587	frameshift variant	C/-	del			9
rs121908216	CACNA1A	0.882	0.200	19	13235702	missense variant	C/T	snv			7
rs1555013332	SHANK2	0.882	0.160	11	70661635	frameshift variant	-/T	delins			4
rs869312705	CHD2	0.882	0.080	15	92953405	frameshift variant	C/-	delins			3
rs121918695	THRB	0.882	0.080	3	24127696	missense variant	C/T	snv	4.0E-06		1
rs1057518083	DYNC1H1	0.851	0.120	14	101986552	missense variant	C/T	snv			21
rs386834070	VPS13B	0.851	0.360	8	99134644	stop gained	C/T	snv			9
rs1085308056	PTEN	0.851	0.160	10	87957850	splice region variant	C/G	snv			8
rs1307997067	TAX1BP3 ; P2RX5-TAX1BP3	0.851	0.320	17	3664199	missense variant	A/C;G	snv	4.0E-06	7.0E-06	7
rs80359636	BRCA2	0.851	0.240	13	32354921	frameshift variant	CT/-	delins		2.8E-05	7
rs1131692232	PUF60	0.851	0.160	8	143818426	inframe deletion	GGGCAAAGG/-	delins			6
rs1135402760	BRSK2	0.851	0.160	11	1451405	frameshift variant	AG/-	delins			6
rs761399728	GNB5	0.851	0.040	15	52153947	missense variant	G/A	snv	5.6E-05	7.0E-06	6
rs773685207	MED13	0.851	0.200	17	61966645	stop gained	G/A;C;T	snv	4.3E-06; 4.3E-05		6
rs1114167297	KIF5B	0.851	0.160	10	32019912	missense variant	T/C	snv			5
rs1555447569	SCAPER	0.851	0.160	15	76471314	frameshift variant	ATTG/-	delins			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