DisGeNET - a database of gene-disease associations

List of shared variants

Epidermolysis Bullosa Simplex Kobner, C0079299

Disease: Epidermolysis Bullosa Simplex

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
rs60399023	KRT14	0.827	0.200	17	41586462	missense variant	G/A;C	snv			5
rs58330629	KRT14	0.851	0.120	17	41586461	missense variant	C/A;G;T	snv			4
rs61027685	KRT14	0.882	0.080	17	41586438	missense variant	C/A;G;T	snv			3
rs59780231	KRT14	0.925	0.080	17	41583272	missense variant	C/G;T	snv	2.1E-02		2
rs59851104	KRT5	0.925	0.080	12	52519869	missense variant	A/G;T	snv			2