DisGeNET - a database of gene-disease associations

List of associated variants

Epidermolysis bullosa simplex, Ogna type, C0432317

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
rs1060499581	PLEC	0.827	0.160	8	143934427	stop gained	G/A	snv			5
rs111730406	PLEC	0.827	0.160	8	143927993	splice acceptor variant	C/G;T	snv			5
rs1554675388	PLEC	0.827	0.160	8	143918471	stop gained	G/A	snv			5
rs1554683108	PLEC	0.827	0.160	8	143920820	stop gained	GC/AA	mnv			5
rs1554689309	PLEC	0.827	0.160	8	143922314	frameshift variant	AGGC/-	delins			5
rs80338755	ITGB4	0.925	0.080	17	75727423	missense variant	G/A	snv	1.6E-05	7.0E-06	2
rs80338756	PLEC	0.925	0.080	8	143924012	missense variant	G/A;C;T	snv			2
rs758551913	ITGB4	1.000	0.080	17	75742580	splice acceptor variant	A/G	snv	4.0E-06		1
rs879255260	PLEC	1.000	0.080	8	143933210	stop gained	G/A	snv			1