Variant: rs201779890 

    present in Gene: LIX1L-AS1;RBM8A
    present in Chromosome: 1
    Position on Chromosome: 145927328
    Alleles of this Variant: C/G

rs201779890 in LIX1L-AS1;RBM8A gene and Thrombocytopenia-Absent Radius Syndrome PMID 22366785 2012 Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.

PMID 28857120 2017 Impact of genetic variants on haematopoiesis in patients with thrombocytopenia absent radii (TAR) syndrome.