Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72658185
rs72658185
COL1A2
A 0.700 CausalMutation CLINVAR Copy number variants in association with type 1 collagenopathy: Atypical osteogenesis imperfecta. 26471105

2016
dbSNP: rs72658185
rs72658185
COL1A2
A 0.700 CausalMutation CLINVAR A rare case of osteogenesis imperfecta combined with complete tooth loss. 23934635

2014
dbSNP: rs72658185
rs72658185
COL1A2
A 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs72658185
rs72658185
COL1A2
A 0.700 CausalMutation CLINVAR Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. 17078022

2007
dbSNP: rs72658185
rs72658185
COL1A2
A 0.700 CausalMutation CLINVAR Osteogenesis imperfecta phenotypes resulting from serine for glycine substitutions in the alpha2(I) collagen chain. 9272740

1997
dbSNP: rs72658185
rs72658185
COL1A2
A 0.700 CausalMutation CLINVAR The human type I collagen mutation database. 9016532

1997
dbSNP: rs72658185
rs72658185
COL1A2
A 0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs72658185
rs72658185
COL1A2
A 0.700 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993