Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779436
rs587779436
COL3A1
0.800 GeneticVariation UNIPROT A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV. 2492273

1989
dbSNP: rs587779436
rs587779436
COL3A1
C 0.800 CausalMutation CLINVAR