Variant: rs121912575 

    present in Gene: TNXB
    present in Chromosome: 6
    Position on Chromosome: 32084536
    Alleles of this Variant: C/T

rs121912575 in TNXB gene and Ehlers-Danlos syndrome caused by tenascin-X deficiency PMID 23768946 2013 Compound heterozygous mutations of the TNXB gene cause primary myopathy.

PMID 15733269 2005 Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations.

PMID 11642233 2001 A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency.