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
rs1555970404	ZNF711	0.882	0.200	X	85255275	frameshift variant	-/A	delins			3
rs1057519561	SNX14	0.882	0.200	6	85533701	frameshift variant	-/AAAAAAAAAAA	delins		7.0E-06	4
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs1569146993	TCF20	0.851	0.320	22	42211700	frameshift variant	-/C	delins			5
rs777843533	ZMIZ1	0.925	0.160	10	79307487	frameshift variant	-/C	delins			3
rs869312875	MED13L	0.882	0.160	12	116237653	frameshift variant	-/C	delins			3
rs869312877	CHD2	0.925	0.160	15	92997299	frameshift variant	-/G	delins			3
rs869312704	TBR1	0.882	0.160	2	161423752	frameshift variant	-/GGCTGCA	delins			10
rs1567815105	ADGRG1	0.807	0.240	16	57660794	frameshift variant	-/T	delins			7
rs879253746	ARID1B	0.925	0.240	6	157200866	frameshift variant	-/T	delins			6
rs1555013332	SHANK2	0.882	0.160	11	70661635	frameshift variant	-/T	delins			4
rs759188041	CENPJ	0.882	0.240	13	24912736	frameshift variant	-/T	delins	3.2E-05	3.5E-05	4
rs1568359734	ASXL3	0.827	0.240	18	33738903	frameshift variant	A/-	delins			8
rs774694340	SNX14	0.882	0.200	6	85508043	frameshift variant	A/-	del	6.4E-05	1.4E-05	4
rs869312670	LOC102724058 ; SCN1A ; SCN1A-AS1	0.925	0.160	2	166013745	frameshift variant	A/-	del			3
rs869312666	MTOR	0.925	0.160	1	11129789	missense variant	A/C	snv			4
rs267607048	SHOC2	0.752	0.560	10	110964362	missense variant	A/G	snv		7.0E-06	16
rs869312663	SCN2A	0.882	0.200	2	165381114	missense variant	A/G	snv			5
rs879253745	ARID1B	0.925	0.240	6	157181040	frameshift variant	AA/-	delins			6
rs397517077	CBL	0.851	0.320	11	119278162	splice acceptor variant	AAAG/-	del			10
rs875989830	SATB2	0.925	0.200	2	199348742	frameshift variant	AC/-	delins			4
rs1135402760	BRSK2	0.851	0.160	11	1451405	frameshift variant	AG/-	delins			6
rs878853161	SLC2A1	0.851	0.240	1	42929977	frameshift variant	AT/-	del			7
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