Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912917
rs121912917
COL3A1
0.800 GeneticVariation UNIPROT A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation. 1352273

1992
dbSNP: rs121912917
rs121912917
COL3A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs121912917
rs121912917
COL3A1
T 0.800 CausalMutation CLINVAR