Variant: rs1553327954 

    present in Gene: SOX11
    present in Chromosome: 2
    Position on Chromosome: 5693512
    Alleles of this Variant: C/A

rs1553327954 in SOX11 gene and Multiple congenital anomalies PMID 15254231 2004 Gene targeting reveals a widespread role for the high-mobility-group transcription factor Sox11 in tissue remodeling.

PMID 24886874 2014 De novo SOX11 mutations cause Coffin-Siris syndrome.

PMID 26543203 2016 Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.