Variant: rs139428292 

    present in Gene: RBM8A;LIX1L-AS1
    present in Chromosome: 1
    Position on Chromosome: 145927447
    Alleles of this Variant: C/A;T

rs139428292 in RBM8A;LIX1L-AS1 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 24053387 2013 Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report.

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

rs139428292 in RBM8A;LIX1L-AS1 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.