DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Body Height ×

Variants associated to the Gene: AMZ1 ×

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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
rs798489	GNA12 ; AMZ1			7	2762169	splice donor variant	C/T	snv		0.20	3
rs798491	AMZ1 ; GNA12			7	2760887	intron variant	A/C;G	snv			2
rs798544	AMZ1			7	2723468	intron variant	C/T	snv		0.25	1
rs798554	AMZ1			7	2720161	intron variant	C/T	snv		0.25	1
rs798557	AMZ1			7	2719348	intron variant	G/A	snv		0.24	1
rs33932857	AMZ1 ; GNA12			7	2736084	intron variant	G/A	snv		0.29	1
rs798497	AMZ1 ; GNA12			7	2756323	intron variant	A/G	snv		0.25	1
rs7777484	GNA12 ; AMZ1			7	2774637	intron variant	A/G	snv		0.38	1