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
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		35
rs104894396	GJB2	0.672	0.400	13	20189511	stop gained	C/T	snv	5.8E-04	1.1E-04	21
rs149617956	MITF	0.672	0.560	3	69964940	missense variant	G/A	snv	1.4E-03	1.6E-03	12
rs11558538	LOC107985948 ; HNMT	0.695	0.400	2	138002079	missense variant	C/T	snv	1.0E-01	8.4E-02	1
rs5742905	CBS	0.701	0.360	21	43063074	missense variant	A/G	snv			4
rs1360780	FKBP5 ; LOC112267956	0.708	0.320	6	35639794	intron variant	T/A;C	snv			1
rs137854539	GNAS	0.716	0.520	20	58903703	missense variant	C/T	snv			27
rs324981	NPSR1-AS1 ; NPSR1	0.724	0.320	7	34778501	missense variant	A/T	snv	0.44	0.47	1
rs121913293	PTEN	0.732	0.360	10	87952142	missense variant	C/A;T	snv			18
rs142441643	SDHA	0.732	0.320	5	223509	stop gained	C/T	snv	2.0E-04	2.4E-04	12
rs587776667	PTEN	0.742	0.280	10	87931090	splice donor variant	G/A;C;T	snv			14
rs1085307845	PHIP	0.752	0.320	6	79025582	missense variant	G/T	snv			21
rs1554210073	PHIP	0.752	0.320	6	79042844	frameshift variant	GT/A	delins			21
rs1555565492	RAI1	0.776	0.160	17	17795417	frameshift variant	-/G	delins			18
rs758361736	KIF7	0.776	0.240	15	89649836	missense variant	T/G	snv	1.3E-05	1.4E-05	16
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13
rs121913294	PTEN	0.776	0.280	10	87952143	missense variant	G/A;C;T	snv	8.0E-06		11
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
rs1562150844	PHIP	0.790	0.280	6	78982908	frameshift variant	CTTT/-	delins			14
rs121909323	CACNA1A	0.790	0.160	19	13277122	stop gained	G/A	snv			8
rs1131691771	PHIP ; IRAK1BP1	0.807	0.160	6	78958469	splice donor variant	ACTT/-	delins			18
rs1085308045	PTEN	0.807	0.160	10	87933128	missense variant	C/G;T	snv			8
rs1114167293	C12orf57	0.807	0.320	12	6944474	splice acceptor variant	A/G	snv	4.0E-06		7
rs1555453538	POLG ; MIR6766	0.807	0.280	15	89326678	frameshift variant	A/-	delins			7