DisGeNET - a database of gene-disease associations

List of associated variants

Myoclonus, C0027066

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
rs387906881	GOSR2 ; LRRC37A2	0.925	0.120	17	46935122	missense variant	G/T	snv	6.0E-05	8.4E-05	3
rs63750634	PSEN1	0.925	0.120	14	73192843	missense variant	T/G	snv			3
rs1553948516	SCARB2	0.925	0.120	4	76181009	frameshift variant	-/G	delins			3
rs770684782	SETX			9	132288268	stop gained	G/A	snv	4.0E-06		3
rs1569149539	TCF20	0.925	0.160	22	42212712	stop gained	G/C	snv			3
rs757199733	TTN			2	178799505	missense variant	G/A	snv	8.0E-06	7.0E-06	2
rs773970701	AAAS			12	53309229	missense variant	C/A;T	snv			1
rs1178773058	AFG3L2			18	12367329	missense variant	C/G;T	snv	8.0E-06; 1.2E-05		1
rs201817335	APP			21	26051139	missense variant	C/T	snv	4.0E-06		1