DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Breast Carcinoma ×

Variants associated to the Gene: ATXN7 ×

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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
rs1053338	ATXN7	1.000	0.080	3	63982224	missense variant	A/G	snv	0.14; 1.2E-05	0.10	1
rs3821902	ATXN7	1.000	0.080	3	63956021	intron variant	T/G	snv		0.10	1