DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Eosinophil count procedure ×

Variants associated to the Gene: ATXN2 ×

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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
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		61
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	23
rs145618127	ATXN2			12	111594766	intron variant	T/C	snv		1.2E-02	1