DisGeNET - a database of gene-disease associations

List of associated variants

Epidermolysis Bullosa Simplex, C0079298

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
rs59616921	KRT9	0.807	0.120	17	41571506	missense variant	G/A	snv			7
rs11170164	KRT5	0.827	0.120	12	52519884	missense variant	C/T	snv	5.7E-02	5.3E-02	6
rs57499817	KRT5	0.807	0.160	12	52520223	missense variant	G/A	snv			6
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
rs59115483	KRT5	0.882	0.080	12	52519789	missense variant	C/T	snv	2.4E-05	7.0E-06	4
rs59190510	KRT5	0.851	0.080	12	52516647	stop gained	C/A;T	snv			4
rs28928893	KRT14	0.882	0.120	17	41586479	missense variant	A/G	snv			3
rs58762773	KRT14	0.882	0.080	17	41583245	missense variant	C/G;T	snv	4.0E-06		3
rs61027685	KRT14	0.882	0.080	17	41586438	missense variant	C/A;G;T	snv			3
rs60586163	KRT5	0.882	0.080	12	52519137	missense variant	G/A;C;T	snv	4.0E-06		3
rs59151464	KRT1	0.925	0.080	12	52679790	missense variant	G/A	snv			2
rs57121345	KRT14	0.925	0.080	17	41586404	missense variant	T/G	snv			2
rs59780231	KRT14	0.925	0.080	17	41583272	missense variant	C/G;T	snv	2.1E-02		2
rs60171927	KRT14	0.925	0.080	17	41586467	missense variant	T/C	snv			2
rs60470268	KRT14	0.925	0.080	17	41586450	missense variant	A/C	snv			2
rs762040846	KRT14	1.000	0.080	17	41586327	missense variant	C/T	snv	4.0E-06		2
rs267607412	KRT17	0.925	0.080	17	41624185	missense variant	T/C	snv	1.2E-05	1.4E-05	2
rs56829062	KRT2	0.925	0.080	12	52646783	missense variant	C/T	snv			2
rs57142010	KRT5	0.925	0.080	12	52517699	missense variant	T/A;C	snv			2
rs57348201	KRT5	0.925	0.080	12	52516662	stop gained	T/A;G	snv	4.0E-06		2
rs58766676	KRT5	0.925	0.080	12	52519120	missense variant	T/A;C;G	snv			2
rs59464425	KRT5	0.925	0.080	12	52517698	missense variant	G/A;T	snv			2
rs59851104	KRT5	0.925	0.080	12	52519869	missense variant	A/G;T	snv			2
rs60715293	KRT5	0.925	0.080	12	52519756	missense variant	A/G	snv			2