DisGeNET - a database of gene-disease associations

List of associated variants

Pachyonychia Congenita, Type 2 (disorder), C1721007

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
rs28928898	KRT17	0.882	0.080	17	41624247	missense variant	A/G;T	snv			3
rs59151893	KRT17	0.882	0.080	17	41624235	missense variant	T/C	snv			3
rs267607412	KRT17	0.925	0.080	17	41624185	missense variant	T/C	snv	1.2E-05	1.4E-05	2
rs28928896	KRT17	0.925	0.080	17	41624236	missense variant	T/C;G	snv			2
rs28928897	KRT17	0.925	0.080	17	41624229	missense variant	C/G;T	snv			2
rs28933088	KRT17	0.925	0.080	17	41624218	missense variant	A/C	snv			2
rs58730926	KRT17	0.925	0.080	17	41624230	missense variant	G/A	snv		1.4E-05	2
rs121912478	KRT17	1.000	0.080	17	41624218	inframe deletion	AGG/-	delins			1
rs28928899	KRT17	1.000	0.080	17	41624226	missense variant	A/G;T	snv			1
rs28933089	KRT17	1.000	0.080	17	41624214	missense variant	A/G	snv			1
rs56690581	KRT17	1.000	0.080	17	41620677	missense variant	A/G	snv			1
rs57674130	KRT17	1.000	0.080	17	41624215	splice donor variant	AGGAGGCCAGGCGGT/-	delins			1
rs59977263	KRT17	1.000	0.080	17	41624206	missense variant	C/T	snv			1