Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201397168
rs201397168
TNXB
A 0.700 GeneticVariation CLINVAR

dbSNP: rs863224860
rs863224860
COL3A1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs56345590
rs56345590
TNXB
0.010 GeneticVariation BEFREE Seven families harbor a novel TNXB missense variant c.12174C>G (p.C4058W) and a clinical phenotype consistent with hypermobility-type Ehlers Danlos syndrome. 26075496

2015