DisGeNET - a database of gene-disease associations

List of shared variants

Movement Disorders, C0026650

Disease: Dystonia

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
rs104893877	SNCA	0.614	0.360	4	89828149	missense variant	C/T	snv			59
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
rs1554504663	RHOBTB2	0.851	0.080	8	23007627	missense variant	G/A	snv			11
rs80358259	NPC1	0.851	0.320	18	23536736	missense variant	A/G	snv	2.0E-04	2.4E-04	9