DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: White Blood Cell Count procedure ×

Variants associated to the Gene: ATXN1 ×

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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
rs1144700	ATXN1			6	16744456	intron variant	C/G;T	snv			5
rs1322599	ATXN1			6	16758194	intron variant	C/T	snv		0.20	1