Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72667029
rs72667029
COL1A1
A 0.700 CausalMutation CLINVAR Ultrastructural and histological findings on examination of skin in osteogenesis imperfecta: a novel study. 25436829

2015
dbSNP: rs72667029
rs72667029
COL1A1
A 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs72667029
rs72667029
COL1A1
A 0.700 CausalMutation CLINVAR One caused a substitution of glycine 200 by valine at the N-terminus of D1 in OI type I/IV, lowering collagen stability by 50% at 34 degrees C. The other one was a substitution of valine 349 by phenylalanine at the C-terminus of D1 in OI type I, lowering collagen stability at 37.5 degrees C. Two other mutations, reported before, changed amino residues in D4. 18670065

2008
dbSNP: rs72667029
rs72667029
COL1A1
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: rs72667029
rs72667029
COL1A1
A 0.700 CausalMutation CLINVAR The human type I collagen mutation database. 9016532

1997
dbSNP: rs72667029
rs72667029
COL1A1
A 0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs72667029
rs72667029
COL1A1
A 0.700 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993