DisGeNET - a database of gene-disease associations

List of associated variants

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT, C2748801

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
rs267607165	TUBB3	0.708	0.520	16	89935679	missense variant	G/A;C	snv			18
rs587784505	TUBB3	0.882	0.160	16	89934743	missense variant	G/A	snv			3
rs267607164	TUBB3	0.925	0.160	16	89935700	missense variant	G/A;C	snv			2
rs267607162	TUBB3	1.000	0.160	16	89935235	missense variant	C/T	snv			1
rs267607163	TUBB3	1.000	0.160	16	89935355	missense variant	G/A	snv			1
rs864321714	TUBB3	1.000	0.160	16	89933486	missense variant	G/A	snv			1
rs864321715	TUBB3	1.000	0.160	16	89933512	missense variant	G/A	snv			1
rs864321716	TUBB3	1.000	0.160	16	89935236	missense variant	G/A	snv			1
rs864321717	TUBB3	1.000	0.160	16	89935589	missense variant	C/T	snv			1