DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Muscle hypotonia ×

Variants associated to the Gene: CIZ1 ×

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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
rs869312702	CIZ1 ; DNM1	0.827	0.160	9	128203609	missense variant	G/A	snv			10
rs1554767317	DNM1 ; CIZ1	1.000		9	128203604	missense variant	G/A	snv			2
rs1554767313	CIZ1 ; DNM1			9	128203597	missense variant	G/A	snv			1