DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Gene: CACNA1S ×

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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
rs4498834	CACNA1S	0.776	0.160	1	201111170	intron variant	T/C	snv		0.56	8
rs3850625	CACNA1S			1	201047168	missense variant	G/A	snv	0.12	8.9E-02	3
rs184837031	CACNA1S			1	201111046	intron variant	G/A;C	snv			1