Variant: rs1553565140 

    present in Gene: TWIST2;LOC100287387
    present in Chromosome: 2
    Position on Chromosome: 238848438
    Alleles of this Variant: G/A;C

rs1553565140 in TWIST2;LOC100287387 gene and Multiple congenital anomalies PMID 20691403 2010 Homozygous nonsense mutations in TWIST2 cause Setleis syndrome.

PMID 26119818 2015 Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

PMID 25410422 2015 Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.