DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Adolescent idiopathic scoliosis ×

Variants associated to the Gene: CDH13 ×

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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
rs2194285	CDH13	0.925	0.040	16	82861212	intron variant	G/A	snv		0.74	2
rs4378601	CDH13	0.925	0.040	16	83050526	intron variant	C/A;T	snv			2
rs4513093	CDH13	0.882	0.200	16	82872937	intron variant	A/C;G	snv			2