DisGeNET - a database of gene-disease associations

List of shared variants

Epidermolysis Bullosa Simplex Kobner, C0079299

Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara

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
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
rs58380626	KRT14	0.925	0.080	17	41583266	missense variant	A/G	snv			2
rs59110575	KRT14	0.925	0.080	17	41586471	missense variant	G/A	snv			2