Variant: rs1000091588 

    present in Gene: IGHMBP2
    present in Chromosome: 11
    Position on Chromosome: 68935374
    Alleles of this Variant: C/T

rs1000091588 in IGHMBP2 gene and SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1 PMID 17431882 2007 Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis.