DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 ×

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
rs57121345	KRT14	0.925	0.080	17	41586404	missense variant	T/G	snv			1
rs121912476	KRT5	1.000		12	52516824	missense variant	C/T	snv	1.2E-05	1.4E-05	1
rs59115483	KRT5	0.882	0.080	12	52519789	missense variant	C/T	snv	2.4E-05	7.0E-06	1