Variant: rs121908450 

    present in Gene: RANBP2;EDAR
    present in Chromosome: 2
    Position on Chromosome: 108929288
    Alleles of this Variant: C/T

rs121908450 in RANBP2;EDAR gene and ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE PMID 19438931 2009 Identification of mutations in the EDA and EDAR genes in Pakistani families with hypohidrotic ectodermal dysplasia.

PMID 18231121 2008 Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.

PMID 15373768 2004 A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene.

PMID 16435307 2006 Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.

PMID 16029325 2005 Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia.

PMID 10431241 1999 Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia.

PMID 20979233 2011 Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.

PMID 27657131 2016 Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients.