DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Epidermolysis Bullosa Simplex Kobner ×

Variants associated to the Gene: KRT5 ×

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
rs121912475	KRT5	1.000	0.080	12	52519160	missense variant	C/A;T	snv			1
rs57599352	KRT5	1.000	0.080	12	52516688	missense variant	A/G	snv			1
rs57751134	KRT5	1.000	0.080	12	52519144	missense variant	T/G	snv			1
rs58107458	KRT5	1.000	0.080	12	52517708	missense variant	A/G	snv			1
rs58163069	KRT5	1.000	0.080	12	52519778	missense variant	C/G	snv			1
rs58608695	KRT5	1.000	0.080	12	52515165	missense variant	C/T	snv			1
rs59840738	KRT5	1.000	0.080	12	52517714	missense variant	A/G	snv			1
rs59851104	KRT5	0.925	0.080	12	52519869	missense variant	A/G;T	snv			1
rs61222761	KRT5	0.925	0.080	12	52519824	missense variant	T/A	snv			1