Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281865136
rs281865136
Entrez Id: 1959
Gene Symbol: EGR2
EGR2
CUI: C0036439
Disease:
Scoliosis, unspecified
0.010 GeneticVariation BEFREE Novel EGR2 mutation R359Q is associated with CMT type 1 and progressive scoliosis. 16198564 2005