Variant: rs28939675 

    present in Gene: TBX1
    present in Chromosome: 22
    Position on Chromosome: 19763273
    Alleles of this Variant: T/A

rs28939675 in TBX1 gene and Shprintzen syndrome PMID 14585638 2003 Role of TBX1 in human del22q11.2 syndrome.

PMID 17273972 2007 Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.