DisGeNET - a database of gene-disease associations

List of associated variants

Tremor of hands, C0239842

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
rs1064795559	MORC2	0.752	0.320	22	30946373	missense variant	G/A	snv			29
rs1555454508	SPG11	0.790	0.240	15	44615487	stop gained	GTA/ATC	mnv			18
rs312262717	SPG11	0.790	0.240	15	44659104	frameshift variant	A/-;AA	delins			18
rs758946412	PCDH19	0.790	0.240	X	100407507	frameshift variant	G/-;GG	delins			12
rs1561904557	CSF1R	0.851	0.160	5	150056050	missense variant	GGAT/TGCC	mnv			9
rs1554776954	STXBP1	1.000		9	127661133	frameshift variant	A/-	delins			5
rs1057518867	ATP7B	1.000	0.040	13	51946381	missense variant	C/T	snv			2