DisGeNET - a database of gene-disease associations

List of associated variants

Moderate intellectual disability, C0026351

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
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs869312672	SMC3	0.925	0.200	10	110577847	missense variant	G/A	snv			3
rs267607048	SHOC2	0.752	0.560	10	110964362	missense variant	A/G	snv		7.0E-06	12
rs869312666	MTOR	0.925	0.160	1	11129789	missense variant	A/C	snv			4
rs869312671	MTOR ; MTOR-AS1	0.882	0.160	1	11144735	missense variant	C/T	snv			5
rs1559759089	ATP6V1A	0.827	0.200	3	113795101	missense variant	C/A	snv			14
rs869312707	MED13L	0.925	0.160	12	115963422	missense variant	G/A	snv			4
rs869312875	MED13L	0.882	0.160	12	116237653	frameshift variant	-/C	delins			3
rs139194636	WARS2	0.882	0.240	1	119033203	missense variant	T/C	snv	6.4E-05	2.3E-04	6
rs757600616	WARS2	0.882	0.240	1	119033279	stop gained	G/A	snv	1.2E-05		6
rs397517077	CBL	0.851	0.320	11	119278162	splice acceptor variant	AAAG/-	del			10
rs534517447	GRIK4 ; LOC101929208	0.925	0.160	11	120956935	missense variant	G/A	snv	2.9E-05	7.0E-06	4
rs869312699	GRIK4	0.925	0.160	11	120986102	protein altering variant	CTGGCGCAGGAGGCC/GCT	delins			4
rs869312702	CIZ1 ; DNM1	0.827	0.160	9	128203609	missense variant	G/A	snv			10
rs878853165	HOOK2 ; MAST1	0.882	0.200	19	12843558	missense variant	C/T	snv			6
rs145465528	LAMA2	0.882	0.240	6	129143976	missense variant	C/T	snv	6.0E-05	9.1E-05	7
rs1060505041	NACC1	0.716	0.400	19	13136099	missense variant	C/A;T	snv			34
rs1564341846	POMT1	0.790	0.280	9	131508926	missense variant	C/A	snv			8
rs796052676	KCNQ3	0.807	0.200	8	132180246	missense variant	G/A	snv			7
rs121908216	CACNA1A	0.882	0.200	19	13235702	missense variant	C/T	snv			7
rs886041095	GRIN2B	0.827	0.160	12	13571930	missense variant	C/T	snv			11
rs886041093	EHMT1	0.827	0.280	9	137815998	missense variant	G/A	snv			7
rs886041097	NAA15	0.882	0.160	4	139386152	stop gained	C/G	snv			9
rs886039899	PURA	0.925	0.160	5	140114891	missense variant	C/T	snv			3
rs1554904772	BRSK2	0.882	0.280	11	1443490	missense variant	G/A	snv			4