DisGeNET - a database of gene-disease associations

List of shared variants

Weber-Cockayne Syndrome, C0080333

Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1

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
rs57358989	KRT14	0.925	0.080	17	41586478	missense variant	C/T	snv			2