DisGeNET - a database of gene-disease associations

Source: GWASDB

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
rs688812	ATXN2			12	111524777	intron variant	C/T	snv		0.20	1
rs695871	ATXN2-AS ; ATXN2	1.000	0.080	12	111599196	missense variant	G/C	snv	0.77	0.61	1
rs739496	SH2B3 ; ATXN2	0.790	0.160	12	111449855	3 prime UTR variant	A/G	snv		0.27	3