DisGeNET - a database of gene-disease associations

List of associated variants

Keratoderma, Palmoplantar, Epidermolytic, C1721006

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
rs28940896	KRT9	0.882	0.120	17	41571515	missense variant	G/A;C	snv			3
rs56707768	KRT9	0.882	0.120	17	41571511	missense variant	T/A;C	snv			3
rs57758262	KRT9	0.925	0.120	17	41571505	missense variant	C/G;T	snv			2
rs60297570	KRT1	1.000	0.080	12	52678650	missense variant	G/A	snv	4.0E-06		1
rs142682445	KRT15 ; MIR6510	1.000	0.080	17	41518338	missense variant	G/A	snv	3.7E-04	5.5E-04	1
rs267607420	KRT9	1.000	0.080	17	41568196	missense variant	A/G	snv			1
rs57019720	KRT9	1.000	0.080	17	41571482	missense variant	C/T	snv			1
rs57536312	KRT9	1.000	0.080	17	41571510	missense variant	A/T	snv			1
rs58120120	KRT9	1.000	0.080	17	41568184	missense variant	G/A	snv			1
rs58597584	KRT9	1.000	0.080	17	41571524	missense variant	T/C;G	snv			1
rs59296273	KRT9	1.000	0.080	17	41571512	missense variant	T/A;G	snv			1
rs59510579	KRT9	1.000	0.080	17	41571523	missense variant	A/C;G;T	snv			1
rs59878153	KRT9	1.000	0.080	17	41571478	missense variant	T/G	snv			1
rs61157095	KRT9	1.000	0.080	17	41571490	missense variant	A/G	snv			1
rs77688767	KRT9	1.000	0.080	17	41568340	missense variant	A/G	snv	1.2E-03	4.3E-04	1