DisGeNET - a database of gene-disease associations

List of associated variants

Hyperkeratosis, Epidermolytic, C0079153

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	Num. diseases
rs59616921	KRT9	0.807	0.120	17	41571506	missense variant	G/A	snv		7
rs147040026	COL7A1	0.882	0.120	3	48591738	missense variant	C/G;T	snv	4.0E-06; 1.6E-05	4
rs57837128	KRT1	0.882	0.120	12	52676314	missense variant	A/G	snv		3
rs58852768	TMEM99 ; KRT10	0.882	0.080	17	40822120	missense variant	G/A;C;T	snv		3
rs59151464	KRT1	0.925	0.080	12	52679790	missense variant	G/A	snv		2
rs58075662	KRT10 ; TMEM99	0.925	0.120	17	40822119	missense variant	C/A;G;T	snv		2
rs137853224	KRT1	1.000	0.080	12	52677682	missense variant	C/G	snv		1
rs137853225	KRT1	1.000	0.080	12	52676326	missense variant	A/G	snv		1
rs267607430	KRT1	1.000	0.080	12	52676296	missense variant	A/G	snv		1
rs56914602	KRT1	1.000	0.080	12	52676293	missense variant	A/C;G	snv		1
rs57695159	KRT1	1.000	0.080	12	52679867	missense variant	A/G	snv		1
rs57959072	KRT1	1.000	0.080	12	52679885	missense variant	A/C;T	snv		1
rs58062863	KRT1	1.000	0.080	12	52677425	missense variant	T/A;C	snv		1
rs58420087	KRT1	1.000	0.080	12	52676305	missense variant	T/C	snv		1
rs58928370	KRT1	1.000	0.080	12	52679786	missense variant	T/C;G	snv		1
rs59089201	KRT1	1.000	0.080	12	52676318	missense variant	C/G;T	snv		1
rs59429455	KRT1	1.000	0.080	12	52679785	missense variant	G/T	snv		1
rs60022878	KRT1	1.000	0.080	12	52679793	missense variant	A/G	snv		1
rs60279707	KRT1	1.000	0.080	12	52676282	missense variant	C/G;T	snv		1
rs60937700	KRT1	1.000	0.080	12	52679772	missense variant	A/G;T	snv		1
rs61549035	KRT1	1.000	0.080	12	52678707	missense variant	A/G	snv		1
rs61616632	KRT1	1.000	0.080	12	52678725	missense variant	A/C;G	snv		1
rs267607377	KRT10 ; TMEM99	1.000	0.080	17	40819608	stop gained	GG/TT	mnv		1
rs267607381	KRT10 ; TMEM99	1.000	0.080	17	40820044	splice region variant	C/T	snv		1
rs267607383	KRT10 ; TMEM99	1.000	0.080	17	40819544	missense variant	T/C	snv		1