Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912914
rs121912914
COL3A1
0.800 GeneticVariation UNIPROT Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. 1496983

1992
dbSNP: rs121912914
rs121912914
COL3A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs121912914
rs121912914
COL3A1
T 0.800 CausalMutation CLINVAR