DisGeNET - a database of gene-disease associations

List of associated variants

EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1, C3715082

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
rs58072617	KRT5	0.790	0.120	12	52517702	missense variant	A/G;T	snv			7
rs59115483	KRT5	0.882	0.080	12	52519789	missense variant	C/T	snv	2.4E-05	7.0E-06	4
rs57121345	KRT14	0.925	0.080	17	41586404	missense variant	T/G	snv			2
rs57358989	KRT14	0.925	0.080	17	41586478	missense variant	C/T	snv			2
rs121912476	KRT5	1.000		12	52516824	missense variant	C/T	snv	1.2E-05	1.4E-05	2
rs200779504	KRT14	1.000		17	41585059	splice acceptor variant	T/G	snv	1.6E-05	1.4E-05	1
rs57278315	KRT14	1.000		17	41586521	frameshift variant	GC/-	del			1
rs60231560	KRT14	1.000		17	41586743	frameshift variant	A/-	del	1.0E-05		1
rs60725382	KRT14	1.000		17	41584410	stop gained	A/G;T	snv	4.0E-06; 4.0E-06		1