DisGeNET - a database of gene-disease associations

List of shared variants

Microcephaly (physical finding), C4551563

Disease: Severe intellectual disability

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
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			36
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
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
rs1223073957	MED25	0.827	0.240	19	49835897	frameshift variant	C/-	delins	1.2E-05	1.4E-05	12
rs776291104	MED25	0.827	0.240	19	49829816	missense variant	C/T	snv	8.7E-06		12
rs1555103652	GRIN2B	0.882	0.240	12	13569973	missense variant	A/C	snv			11
rs869312685	ITPR1	0.807	0.240	3	4815135	missense variant	G/A;C	snv			11
rs796051881	PEX5	0.807	0.440	12	7202274	frameshift variant	-/A	delins			9
rs1557024919	HUWE1	0.925	0.240	X	53634235	splice donor variant	C/G	snv			7
rs1557036757	HUWE1	0.925	0.240	X	53647375	missense variant	G/A	snv			7
rs122445099	ATRX	0.827	0.400	X	77520832	stop gained	G/A	snv			6
rs369691608	ZNF142 ; BCS1L	1.000	0.160	2	218661255	missense variant	C/T	snv	8.0E-06		5