Variant: rs200089714 

    present in Gene: IGHMBP2
    present in Chromosome: 11
    Position on Chromosome: 68906109
    Alleles of this Variant: C/G;T

rs200089714 in IGHMBP2 gene and Distal Spinal Muscular Atrophy PMID 14506069 2003 Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1.