DisGeNET - a database of gene-disease associations

Source: GWASCAT

Disease: Adolescent idiopathic scoliosis ×

Variant: rs6137473 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs6137473

rs6137473

CUI:	C0410702
Disease:	Adolescent idiopathic scoliosis

Adolescent idiopathic scoliosis

G

0.700

GeneticVariation

GWASCAT

A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females.

2015