DisGeNET - a database of gene-disease associations

List of associated variants

Orbital separation diminished, C0424711

Source: ALL

Results per page

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
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv			58
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
rs1569509136	HUWE1	0.708	0.400	X	53647576	splice acceptor variant	T/C	snv			24
rs398123009	PACS1	0.790	0.200	11	66211206	missense variant	C/T	snv		7.0E-06	19
rs1554603293	CHD7	0.752	0.320	8	60849154	missense variant	G/A	snv			17
rs1553284997	DIPK1A ; RPL5	0.790	0.400	1	92833544	splice acceptor variant	G/C	snv			17
rs1555565774	EFTUD2	0.807	0.360	17	44862753	frameshift variant	G/-	delins			16
rs1555570110	MPDU1	0.827	0.240	17	7586766	missense variant	A/C	snv			9
rs1555350397	OTX2	0.827	0.200	14	56804268	frameshift variant	ACA/CC	delins			9
rs199469464	SRCAP	0.807	0.200	16	30737370	stop gained	C/T	snv			8