Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777682
rs587777682
TNXB
0.700 GeneticVariation UNIPROT Compound heterozygous mutations of the TNXB gene cause primary myopathy. 23768946

2013
dbSNP: rs587777682
rs587777682
TNXB
0.700 GeneticVariation UNIPROT Elastic fiber abnormalities in hypermobility type Ehlers-Danlos syndrome patients with tenascin-X mutations. 15733269

2005
dbSNP: rs587777682
rs587777682
TNXB
0.700 GeneticVariation UNIPROT A recessive form of the Ehlers-Danlos syndrome caused by tenascin-X deficiency. 11642233

2001