Variant: rs142948132 

    present in Gene: EDA
    present in Chromosome: X
    Position on Chromosome: 70035434
    Alleles of this Variant: G/A;C;T

rs142948132 in EDA gene and Tooth Agenesis, Selective, X-Linked, 1 PMID 27144394 2016 Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis.

PMID 18657636 2009 Novel EDA mutation resulting in X-linked non-syndromic hypodontia and the pattern of EDA-associated isolated tooth agenesis.

PMID 23603338 2013 Non-syndromic tooth agenesis associated with a nonsense mutation in ectodysplasin-A (EDA).

PMID 24487376 2014 Oligodontia and curly hair occur with ectodysplasin-a mutations.

PMID 19278982 2009 EDA gene mutations underlie non-syndromic oligodontia.

PMID 16583127 2006 A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.

PMID 23625373 2013 Novel EDA p.Ile260Ser mutation linked to non-syndromic hypodontia.