DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Diastolic blood pressure ×

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
rs597808	ATXN2	0.742	0.200	12	111535554	intron variant	A/G	snv		0.67	19
rs7137828	ATXN2	0.763	0.200	12	111494996	intron variant	C/A;T	snv			14