DisGeNET - a database of gene-disease associations

List of shared variants

Sleep disturbances, C0037317

Disease: Cortical visual impairment

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
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs200661329	PIGQ	0.708	0.440	16	576255	splice donor variant	G/A;C	snv	5.7E-05		48
rs1557043622	SLC35A2	0.695	0.400	X	48909843	missense variant	C/A	snv			46
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34