Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs132630317
rs132630317
EDA
0.010 GeneticVariation BEFREE We report HED in a 6-year-old boy with an Ala349Thr (GCA --> ACA) missense mutation developed de novo. 15461765

2005