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
rs1554893835	PTEN	0.827	0.240	10	87894110	splice donor variant	G/C;T	snv			8
rs80359636	BRCA2	0.851	0.240	13	32354921	frameshift variant	CT/-	delins		2.8E-05	7
rs1114167293	C12orf57	0.807	0.320	12	6944474	splice acceptor variant	A/G	snv	4.0E-06		7
rs121908216	CACNA1A	0.882	0.200	19	13235702	missense variant	C/T	snv			7
rs1564691414	FAS	0.925	0.160	10	89007698	splice acceptor variant	A/G	snv			7
rs1555453538	POLG ; MIR6766	0.807	0.280	15	89326678	frameshift variant	A/-	delins			7
rs1085308050	PTEN	0.827	0.160	10	87933178	frameshift variant	-/A	delins			7
rs1307997067	TAX1BP3 ; P2RX5-TAX1BP3	0.851	0.320	17	3664199	missense variant	A/C;G	snv	4.0E-06	7.0E-06	7
rs1135402760	BRSK2	0.851	0.160	11	1451405	frameshift variant	AG/-	delins			6
rs786200963	CACNA1A	0.827	0.200	19	13371683	splice region variant	C/T	snv			6
rs199821421	CREBBP	0.827	0.160	16	3728723	stop gained	G/A;T	snv	5.2E-05		6
rs761399728	GNB5	0.851	0.040	15	52153947	missense variant	G/A	snv	5.6E-05	7.0E-06	6
rs1114167295	MAGED2	0.827	0.160	X	54812169	frameshift variant	C/-	del			6
rs773685207	MED13	0.851	0.200	17	61966645	stop gained	G/A;C;T	snv	4.3E-06; 4.3E-05		6
rs1131692232	PUF60	0.851	0.160	8	143818426	inframe deletion	GGGCAAAGG/-	delins			6
rs1114167296	TMEM47	0.827	0.160	X	34656995	missense variant	C/G	snv			6
rs1114167297	KIF5B	0.851	0.160	10	32019912	missense variant	T/C	snv			5
rs1569110700	TCF20	0.925	0.080	22	42179633	missense variant	G/A	snv			5
rs730882197	C12orf4	0.925	0.040	12	4525342	frameshift variant	-/GTTT	delins			4
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
rs776300630	HIVEP1	0.925	0.080	6	12123884	missense variant	G/C;T	snv	8.0E-06		4
rs1555447569	SCAPER	0.851	0.160	15	76471314	frameshift variant	ATTG/-	delins			4
rs1555013332	SHANK2	0.882	0.160	11	70661635	frameshift variant	-/T	delins			4
rs140630794	CHAF1B	0.925	0.040	21	36397429	missense variant	A/C;G	snv	1.3E-05; 4.2E-06		3