Variant: rs397509417 

    present in Gene: TRAPPC11
    present in Chromosome: 4
    Position on Chromosome: 183701783
    Alleles of this Variant: G/A

rs397509417 in TRAPPC11 gene and Autosomal recessive limb girdle muscular dystrophy type 2S PMID 23830518 2013 Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.