Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553445945
rs1553445945
Entrez Id: 5903;10913
Gene Symbol: RANBP2;EDAR
RANBP2;EDAR
CUI: C0013575
Disease:
Ectodermal Dysplasia
T 0.700 CausalMutation CLINVAR Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia. 16435307 2006