DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Platelet Count measurement ×

Variants associated to the Gene: CARMIL1 ×

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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
rs214053	CARMIL1			6	25527735	intron variant	T/C	snv		0.43	2
rs12526480	CARMIL1			6	25533306	intron variant	T/G	snv		0.32	1
rs441460	CARMIL1			6	25548060	intron variant	G/A	snv		0.45	1
rs926326	CARMIL1			6	25575174	intron variant	A/C;G	snv			1