DisGeNET - a database of gene-disease associations

List of associated variants

Moderate intellectual disability, C0026351

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
rs1567815105	ADGRG1	0.807	0.240	16	57660794	frameshift variant	-/T	delins			7
rs879253745	ARID1B	0.925	0.240	6	157181040	frameshift variant	AA/-	delins			6
rs879253746	ARID1B	0.925	0.240	6	157200866	frameshift variant	-/T	delins			6
rs879253747	ARID1B	0.925	0.240	6	157167101	stop gained	C/T	snv			6
rs879253856	ARID1B	0.925	0.240	6	157110496	frameshift variant	CCG/TCCGCAGCCACTCC	delins			6
rs1568359734	ASXL3	0.827	0.240	18	33738903	frameshift variant	A/-	delins			8
rs869312696	ASXL3	0.882	0.160	18	33739086	stop gained	C/A	snv			5
rs1559759089	ATP6V1A	0.827	0.200	3	113795101	missense variant	C/A	snv			14
rs797045412	BICD2	0.776	0.280	9	92718565	missense variant	G/A;T	snv			17
rs1135401778	BPTF	0.752	0.400	17	67854315	frameshift variant	T/-	del			20
rs1135402760	BRSK2	0.851	0.160	11	1451405	frameshift variant	AG/-	delins			6
rs1554904772	BRSK2	0.882	0.280	11	1443490	missense variant	G/A	snv			4
rs121908216	CACNA1A	0.882	0.200	19	13235702	missense variant	C/T	snv			7
rs397517077	CBL	0.851	0.320	11	119278162	splice acceptor variant	AAAG/-	del			10
rs201111299	CENPJ	0.882	0.240	13	24906906	stop gained	G/A	snv	8.4E-05	9.1E-05	4
rs759188041	CENPJ	0.882	0.240	13	24912736	frameshift variant	-/T	delins	3.2E-05	3.5E-05	4
rs869312877	CHD2	0.925	0.160	15	92997299	frameshift variant	-/G	delins			3
rs869312702	CIZ1 ; DNM1	0.827	0.160	9	128203609	missense variant	G/A	snv			10
rs144078282	CLPB	0.776	0.400	11	72302339	missense variant	T/A;C	snv	1.8E-04; 2.0E-04		9
rs200203460	CLPB	0.776	0.400	11	72302312	stop gained	G/A;C;T	snv	2.8E-05		9
rs1131691299	DDX3X	0.882	0.160	X	41341587	frameshift variant	C/-	del			9
rs1085307451	DHX30 ; MIR1226	0.925	0.160	3	47848246	missense variant	C/T	snv			4
rs886041093	EHMT1	0.827	0.280	9	137815998	missense variant	G/A	snv			7
rs1043679457	ERCC8	0.752	0.400	5	60927745	intron variant	C/A;G;T	snv			33
rs886039903	FGF12	0.807	0.200	3	192335434	missense variant	C/T	snv			6