DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Red Blood Cell Count measurement ×

Variants associated to the Gene: CACNA1C ×

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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
rs16929368	CACNA1C			12	2414606	intron variant	T/A;C	snv			1
rs35407591	CACNA1C			12	2408721	intron variant	G/A	snv		0.36	1