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
rs202153551	CDKL5 ; RS1	1.000	0.160	X	18650466	stop gained	C/T	snv	2.0E-04	6.6E-05	1
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs373145711	ASXL1	0.732	0.520	20	32433408	stop gained	C/T	snv	2.0E-05	2.8E-05	25
rs869025316	UNC80	0.925	0.160	2	209918616	missense variant	C/T	snv	3.8E-05	2.8E-05	4
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs483352897	NAGLU	0.882	0.280	17	42537517	frameshift variant	CGGCCAGGAG/-	delins	1.2E-05	2.8E-05	9
rs753520553	NAGLU	0.851	0.280	17	42537433	missense variant	A/G	snv	3.2E-05	2.1E-05	10
rs74315442	CSTB	0.851	0.200	21	43774297	stop gained	G/A	snv	4.0E-05	2.1E-05	10
rs1223073957	MED25	0.827	0.240	19	49835897	frameshift variant	C/-	delins	1.2E-05	1.4E-05	12
rs1325394060	HUWE1	0.851	0.320	X	53534144	missense variant	C/G;T	snv		9.5E-06	9
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs869312873	NALCN	0.925	0.200	13	101089846	splice region variant	C/T	snv		7.0E-06	5
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv			37
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			36
rs201893408	TMEM67	0.695	0.480	8	93795970	missense variant	T/A;C	snv	8.0E-06; 1.5E-04		28
rs1555954284	DDX3X	0.752	0.360	X	41346607	missense variant	C/T	snv			24
rs28934908	MECP2	0.732	0.280	X	154031409	missense variant	G/A;T	snv	5.5E-06		23
rs752362727	TMEM67	0.716	0.480	8	93786255	missense variant	C/T	snv	2.0E-05		22
rs1014959895	PRMT7	0.763	0.360	16	68329105	stop gained	G/C;T	snv	4.0E-06; 1.6E-05		16
rs1057518848	TCF4	0.827	0.240	18	55229003	frameshift variant	-/ATTG	delins			15
rs1251713297	PRMT7	0.776	0.360	16	68355785	stop gained	C/A	snv	8.1E-06		15
rs112795301	FOXP1	0.776	0.160	3	70972634	stop gained	G/A	snv			13
rs1131692231	CYFIP2	0.827	0.280	5	157294834	missense variant	C/T	snv			13