Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72667031
rs72667031
COL1A1
A 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs72667031
rs72667031
COL1A1
A 0.700 CausalMutation CLINVAR Popcorn calcification in osteogenesis imperfecta: incidence, progression, and molecular correlation. 18798308

2008
dbSNP: rs72667031
rs72667031
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: rs72667031
rs72667031
COL1A1
A 0.700 CausalMutation CLINVAR Osteogenesis imperfecta: clinical, biochemical and molecular findings. 16879195

2006
dbSNP: rs72667031
rs72667031
COL1A1
A 0.700 CausalMutation CLINVAR Mutations near amino end of alpha1(I) collagen cause combined osteogenesis imperfecta/Ehlers-Danlos syndrome by interference with N-propeptide processing. 15728585

2005
dbSNP: rs72667031
rs72667031
COL1A1
A 0.700 CausalMutation CLINVAR The human type I collagen mutation database. 9016532

1997
dbSNP: rs72667031
rs72667031
COL1A1
A 0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs72667031
rs72667031
COL1A1
A 0.700 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993