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
rs104894396	GJB2	0.672	0.400	13	20189511	stop gained	C/T	snv	5.8E-04	1.1E-04	21
rs1057518083	DYNC1H1	0.851	0.120	14	101986552	missense variant	C/T	snv			21
rs1057519438	CDK20	0.925	0.080	9	87969919	stop gained	C/G;T	snv	4.9E-06		4
rs1085307845	PHIP	0.752	0.320	6	79025582	missense variant	G/T	snv			21
rs1085308045	PTEN	0.807	0.160	10	87933128	missense variant	C/G;T	snv			8
rs1085308050	PTEN	0.827	0.160	10	87933178	frameshift variant	-/A	delins			7
rs1085308056	PTEN	0.851	0.160	10	87957850	splice region variant	C/G	snv			8
rs1114167293	C12orf57	0.807	0.320	12	6944474	splice acceptor variant	A/G	snv	4.0E-06		7
rs1114167295	MAGED2	0.827	0.160	X	54812169	frameshift variant	C/-	del			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
rs1131691299	DDX3X	0.882	0.160	X	41341587	frameshift variant	C/-	del			9
rs1131691771	PHIP ; IRAK1BP1	0.807	0.160	6	78958469	splice donor variant	ACTT/-	delins			18
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
rs11558538	LOC107985948 ; HNMT	0.695	0.400	2	138002079	missense variant	C/T	snv	1.0E-01	8.4E-02	1
rs121908216	CACNA1A	0.882	0.200	19	13235702	missense variant	C/T	snv			7
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		35
rs121909323	CACNA1A	0.790	0.160	19	13277122	stop gained	G/A	snv			8
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
rs121913294	PTEN	0.776	0.280	10	87952143	missense variant	G/A;C;T	snv	8.0E-06		11
rs121918695	THRB	0.882	0.080	3	24127696	missense variant	C/T	snv	4.0E-06		1
rs1307997067	TAX1BP3 ; P2RX5-TAX1BP3	0.851	0.320	17	3664199	missense variant	A/C;G	snv	4.0E-06	7.0E-06	7
rs1360780	FKBP5 ; LOC112267956	0.708	0.320	6	35639794	intron variant	T/A;C	snv			1