Variant: rs140059558 

    present in Gene: MMP13
    present in Chromosome: 11
    Position on Chromosome: 102954174
    Alleles of this Variant: A/C;G

rs140059558 in MMP13 gene and Metaphyseal chondrodysplasia Spahr type PMID 24781753 2015 Exome sequencing reveals a nonsense mutation in MMP13 as a new cause of autosomal recessive metaphyseal anadysplasia.

PMID 24648384 2014 MMP13 mutations are the cause of recessive metaphyseal dysplasia, Spahr type.