DisGeNET - a database of gene-disease associations

List of associated variants

Myotonia, C0027125

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
rs914586984	LOC105371858 ; SCN4A	1.000	0.120	17	63959275	missense variant	G/C;T	snv			9
rs149729531	CLCN1	0.851	0.200	7	143321432	missense variant	C/G	snv	1.2E-03	7.5E-04	6
rs1554438441	CLCN1	0.882	0.040	7	143342006	frameshift variant	-/TC	delins			5
rs80356690	CLCN1	0.882	0.120	7	143330788	missense variant	C/G;T	snv	1.2E-05		4
rs1057518917	CLCN1	0.925	0.120	7	143351633	stop gained	C/T	snv	8.0E-06	1.4E-05	3
rs1554436510	CLCN1			7	143331279	missense variant	T/C	snv			2
rs1057518865	SCN4A			17	63957443	missense variant	C/T	snv			2