DisGeNET - a database of gene-disease associations

List of associated variants

Hypokalemic Periodic Paralysis, Type 2, C2750061

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
rs121908552	SCN4A ; LOC105371858	0.763	0.160	17	63964587	missense variant	C/A;G;T	snv	4.0E-06		14
rs80338962	SCN4A	0.742	0.240	17	63941508	missense variant	T/C	snv			13
rs80338957	SCN4A	0.776	0.160	17	63957427	missense variant	G/A	snv			11
rs121908547	SCN4A	0.790	0.160	17	63943825	missense variant	G/A	snv	4.0E-06		7
rs527236148	SCN4A	0.790	0.160	17	63971201	missense variant	G/A	snv		7.0E-06	7
rs886041805	SCN4A	0.790	0.160	17	63941506	missense variant	C/A;T	snv			7
rs121908545	SCN4A	0.851	0.160	17	63941939	missense variant	C/A;G;T	snv			5
rs80338784	LOC105371858 ; SCN4A	0.851	0.160	17	63959278	missense variant	C/T	snv	8.0E-06		4
rs80338788	LOC105371858 ; SCN4A	0.851	0.160	17	63959269	missense variant	C/A;T	snv	4.0E-06; 1.2E-05		4
rs80338789	SCN4A	0.851	0.160	17	63947091	missense variant	C/T	snv		1.4E-05	4
rs80338785	SCN4A ; LOC105371858	0.851	0.160	17	63959270	missense variant	G/A;C;T	snv			4
rs527236150	SCN4A	0.882	0.160	17	63947082	missense variant	C/T	snv			3
rs121908555	SCN4A	0.925	0.160	17	63945608	missense variant	G/A	snv			2
rs527236149	SCN4A	0.925	0.160	17	63947100	missense variant	C/G;T	snv	8.4E-05		2
rs1287863349	SCN4A	1.000	0.160	17	63947083	missense variant	G/A	snv	4.0E-06	1.4E-05	1