DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Muscle hypotonia ×

Variants associated to the Gene: CACNA1A ×

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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
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs1057520918	CACNA1A	0.790	0.160	19	13262780	missense variant	C/T	snv			7
rs886037945	CACNA1A	0.827	0.160	19	13303584	missense variant	C/T	snv			6