Variant: rs112814811 

    present in Gene: COL6A1
    present in Chromosome: 21
    Position on Chromosome: 45998397
    Alleles of this Variant: G/A;C

rs112814811 in COL6A1 gene and BETHLEM MYOPATHY 1 PMID 21280092 2011 Large genomic deletions: a novel cause of Ullrich congenital muscular dystrophy.

PMID 20976770 2010 Early onset collagen VI myopathies: Genetic and clinical correlations.

PMID 18366090 2008 Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.