DisGeNET - a database of gene-disease associations

List of associated variants

Severe intellectual disability, C0036857

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
rs869312685	ITPR1	0.807	0.240	3	4815135	missense variant	G/A;C	snv			11
rs753520553	NAGLU	0.851	0.280	17	42537433	missense variant	A/G	snv	3.2E-05	2.1E-05	10
rs1131692272	AFF3	0.851	0.240	2	100006808	missense variant	C/T	snv			9
rs1325394060	HUWE1	0.851	0.320	X	53534144	missense variant	C/G;T	snv		9.5E-06	9
rs1057518950	TPO	0.851	0.280	2	1484815	missense variant	C/T	snv			7
rs1556913258	HUWE1	0.851	0.280	X	53536580	missense variant	G/C	snv			7
rs1556978515	HUWE1	0.851	0.280	X	53591113	missense variant	T/C	snv			7
rs1557036757	HUWE1	0.925	0.240	X	53647375	missense variant	G/A	snv			7
rs886041876	HUWE1	0.851	0.280	X	53551078	missense variant	G/A	snv			7
rs1556913268	HUWE1	0.851	0.240	X	53536600	missense variant	T/A	snv			6
rs782393002	HUWE1	0.882	0.280	X	53549413	missense variant	A/C;G	snv	1.1E-05		6
rs863225264	MTOR	0.827	0.240	1	11130747	missense variant	C/T	snv			6
rs1057521721	GRIA3	0.851	0.200	X	123428020	missense variant	G/A	snv			5
rs1557006903	HUWE1	0.851	0.280	X	53615815	missense variant	C/T	snv			5
rs369691608	ZNF142 ; BCS1L	1.000	0.160	2	218661255	missense variant	C/T	snv	8.0E-06		5
rs397514627	CAMK2G	0.882	0.160	10	73842486	missense variant	C/A;G	snv			5
rs869312865	GRIN1 ; LOC105376328	0.827	0.160	9	137156676	missense variant	G/A;C	snv			5
rs1556024875	THOC2	0.882	0.160	X	123634002	missense variant	G/A	snv			4
rs1556910184	HUWE1	0.882	0.240	X	53534615	missense variant	C/G	snv			4
rs796053356	STXBP1	0.882	0.160	9	127663344	missense variant	G/A	snv			4
rs869025316	UNC80	0.925	0.160	2	209918616	missense variant	C/T	snv	3.8E-05	2.8E-05	4
rs869025317	UNC80	0.925	0.160	2	209959707	missense variant	G/C	snv			4
rs201968272	DDX11	0.925	0.160	12	31089147	missense variant	G/A	snv			3
rs387906739	LOC107984661 ; DYNC1H1	0.882	0.200	14	102039416	missense variant	A/C	snv			3
rs387906740	DYNC1H1	0.882	0.200	14	102002546	missense variant	G/A	snv			3