DisGeNET - a database of gene-disease associations

List of associated variants

Palmoplantar Keratosis, C0022596

Source: CURATED ×

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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
rs104894226	LRRC56 ; HRAS	0.658	0.560	11	534285	missense variant	C/A;G;T	snv			23
rs1114167422	SNORA56 ; DKC1	0.776	0.320	X	154773148	missense variant	A/G	snv			11
rs1057518788	DSG1	0.925	0.120	18	31331787	stop gained	G/T	snv			2
rs1182196436	DSG1	0.925	0.120	18	31326922	stop gained	C/A;T	snv			2
rs761241711	DSG1	0.925	0.080	18	31336524	stop gained	T/C;G	snv	1.1E-04		2
rs60399023	KRT14	0.827	0.200	17	41586462	missense variant	G/A;C	snv			2