Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1569404780
rs1569404780
EDA
T 0.700 CausalMutation CLINVAR Phenotypic heterogeneity and mutational spectrum in a cohort of 45 Italian males subjects with X-linked ectodermal dysplasia. 24724966

2015
dbSNP: rs1569404780
rs1569404780
EDA
T 0.700 CausalMutation CLINVAR Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. 9683615

1998