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
rs1043679457	ERCC8	0.752	0.400	5	60927745	intron variant	C/A;G;T	snv			33
rs1057519561	SNX14	0.882	0.200	6	85533701	frameshift variant	-/AAAAAAAAAAA	delins		7.0E-06	4
rs1060499626	ZMYND11	0.882	0.160	10	180034	stop gained	C/T	snv			6
rs1060505041	NACC1	0.716	0.400	19	13136099	missense variant	C/A;T	snv			34
rs1085307451	DHX30 ; MIR1226	0.925	0.160	3	47848246	missense variant	C/T	snv			4
rs1131691299	DDX3X	0.882	0.160	X	41341587	frameshift variant	C/-	del			9
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
rs1135402761	SYT1	0.827	0.320	12	79448958	missense variant	T/C	snv			11
rs119103286	TTC8	0.851	0.280	14	88841196	missense variant	G/A	snv	6.4E-05	3.5E-05	5
rs121908216	CACNA1A	0.882	0.200	19	13235702	missense variant	C/T	snv			7
rs1305542291	SCAPER	0.882	0.160	15	76381427	missense variant	C/T	snv	4.0E-06	1.4E-05	3
rs139194636	WARS2	0.882	0.240	1	119033203	missense variant	T/C	snv	6.4E-05	2.3E-04	6
rs1395475624	SCAPER	0.882	0.160	15	76753813	inframe deletion	CTT/-	delins			3
rs142110773	FIGNL1 ; DDC	0.882	0.160	7	50463317	missense variant	G/A	snv	1.6E-05	7.0E-06	13
rs144078282	CLPB	0.776	0.400	11	72302339	missense variant	T/A;C	snv	1.8E-04; 2.0E-04		9
rs145465528	LAMA2	0.882	0.240	6	129143976	missense variant	C/T	snv	6.0E-05	9.1E-05	7
rs149617956	MITF	0.672	0.560	3	69964940	missense variant	G/A	snv	1.4E-03	1.6E-03	32
rs150015474	STYXL1 ; TMEM120A	1.000	0.160	7	75996479	missense variant	G/C;T	snv	1.8E-03; 4.0E-06	7.0E-03	1
rs1553154130	RERE	0.807	0.280	1	8358231	missense variant	T/A;C	snv			18
rs1553546045	PTH2R	0.925	0.200	2	208442425	missense variant	C/T	snv			5
rs1553654413	ITPR1	0.925	0.240	3	4627877	splice region variant	CGTA/-	delins			4
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs1554297905	RALA	0.882	0.160	7	39686740	missense variant	G/A	snv			6
rs1554904772	BRSK2	0.882	0.280	11	1443490	missense variant	G/A	snv			4