Variant: rs1553189986 

    present in Gene: SKI
    present in Chromosome: 1
    Position on Chromosome: 2229402
    Alleles of this Variant: TCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGC/-

rs1553189986 in SKI gene and Shprintzen-Goldberg syndrome PMID 12419246 2002 Structural mechanism of Smad4 recognition by the nuclear oncoprotein Ski: insights on Ski-mediated repression of TGF-beta signaling.

PMID 12857746 2003 Direct interaction of Ski with either Smad3 or Smad4 is necessary and sufficient for Ski-mediated repression of transforming growth factor-beta signaling.