DisGeNET - a database of gene-disease associations

List of associated variants

Attention deficit hyperactivity disorder, C1263846

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
rs3836790	SLC6A3	0.882	0.080	5	1411740	intron variant	-/ACATACACACTCAGACACACATACCATGCA	ins			5
rs786205019	MECP2	0.925	0.120	X	154030644	splice acceptor variant	CTCTCGGGCTCAGGTGGAGGT/TGCTCAAGTCCTGGGGCTCAG	mnv			2
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
rs1554210073	PHIP	0.752	0.320	6	79042844	frameshift variant	GT/A	delins			21
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs1131691771	PHIP ; IRAK1BP1	0.807	0.160	6	78958469	splice donor variant	ACTT/-	delins			18
rs1555565492	RAI1	0.776	0.160	17	17795417	frameshift variant	-/G	delins			18
rs1555640521	LAMA1	0.790	0.320	18	6942110	frameshift variant	A/-	delins			15
rs1562150844	PHIP	0.790	0.280	6	78982908	frameshift variant	CTTT/-	delins			14
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13
rs1085308050	PTEN	0.827	0.160	10	87933178	frameshift variant	-/A	delins			7
rs1555453538	POLG ; MIR6766	0.807	0.280	15	89326678	frameshift variant	A/-	delins			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
rs1555013332	SHANK2	0.882	0.160	11	70661635	frameshift variant	-/T	delins			4
rs1555447569	SCAPER	0.851	0.160	15	76471314	frameshift variant	ATTG/-	delins			4
rs730882197	C12orf4	0.925	0.040	12	4525342	frameshift variant	-/GTTT	delins			4
rs869312705	CHD2	0.882	0.080	15	92953405	frameshift variant	C/-	delins			3
rs11317767	LOC105371529	1.000	0.040	17	8770824	intergenic variant	TTT/-;TT;TTTT	delins			1
rs142458453		1.000	0.040	12	31377392	downstream gene variant	TAAATAAA/-;TAAA;TAAATAAATAAA;TAAATAAATAAATAAA;TAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAA;TAAATAAATAAATAAATAAATAAATAAA	delins			1
rs3047819	MEF2C	1.000	0.040	5	88879383	intron variant	TATA/-;TA;TATATA	delins			1
rs5886709	FOXP2	1.000	0.040	7	114446079	intron variant	CT/-	delins		0.39	1
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614