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
rs1085308050	PTEN	0.827	0.160	10	87933178	frameshift variant	-/A	delins			7
rs1555565492	RAI1	0.776	0.160	17	17795417	frameshift variant	-/G	delins			18
rs730882197	C12orf4	0.925	0.040	12	4525342	frameshift variant	-/GTTT	delins			4
rs1555013332	SHANK2	0.882	0.160	11	70661635	frameshift variant	-/T	delins			4
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs1555640521	LAMA1	0.790	0.320	18	6942110	frameshift variant	A/-	delins			15
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13
rs1555453538	POLG ; MIR6766	0.807	0.280	15	89326678	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
rs140630794	CHAF1B	0.925	0.040	21	36397429	missense variant	A/C;G	snv	1.3E-05; 4.2E-06		3
rs1114167293	C12orf57	0.807	0.320	12	6944474	splice acceptor variant	A/G	snv	4.0E-06		7
rs1564691414	FAS	0.925	0.160	10	89007698	splice acceptor variant	A/G	snv			7
rs5742905	CBS	0.701	0.360	21	43063074	missense variant	A/G	snv			4
rs324981	NPSR1-AS1 ; NPSR1	0.724	0.320	7	34778501	missense variant	A/T	snv	0.44	0.47	1
rs7794745	CNTNAP2	0.851	0.040	7	146792514	intron variant	A/T	snv		0.49	1
rs1131691771	PHIP ; IRAK1BP1	0.807	0.160	6	78958469	splice donor variant	ACTT/-	delins			18
rs1135402760	BRSK2	0.851	0.160	11	1451405	frameshift variant	AG/-	delins			6
rs1555447569	SCAPER	0.851	0.160	15	76471314	frameshift variant	ATTG/-	delins			4
rs1131691299	DDX3X	0.882	0.160	X	41341587	frameshift variant	C/-	del			9
rs1114167295	MAGED2	0.827	0.160	X	54812169	frameshift variant	C/-	del			6
rs869312705	CHD2	0.882	0.080	15	92953405	frameshift variant	C/-	delins			3
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
rs121913293	PTEN	0.732	0.360	10	87952142	missense variant	C/A;T	snv			18
rs1085308056	PTEN	0.851	0.160	10	87957850	splice region variant	C/G	snv			8
rs1114167296	TMEM47	0.827	0.160	X	34656995	missense variant	C/G	snv			6