Variant: rs1554168326 

    present in Gene: COL12A1
    present in Chromosome: 6
    Position on Chromosome: 75102015
    Alleles of this Variant: C/T

rs1554168326 in COL12A1 gene and Muscle hypotonia PMID 24334604 2014 Recessive and dominant mutations in COL12A1 cause a novel EDS/myopathy overlap syndrome in humans and mice.

PMID 24334769 2014 Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.