Variant: rs201620629 

    present in Gene: TBX6
    present in Chromosome: 16
    Position on Chromosome: 30086847
    Alleles of this Variant: G/A;C

rs201620629 in TBX6 gene and SPONDYLOCOSTAL DYSOSTOSIS 5 PMID 25564734 2015 TBX6 null variants and a common hypomorphic allele in congenital scoliosis.

PMID 23335591 2013 Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6.