Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs66619856
rs66619856
COL1A2
A 0.700 CausalMutation CLINVAR Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide Mutations. 26371943

2018
dbSNP: rs66619856
rs66619856
COL1A2
A 0.700 CausalMutation CLINVAR Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing. 26432670

2015
dbSNP: rs66619856
rs66619856
COL1A2
A 0.700 CausalMutation CLINVAR Cardiopulmonary dysfunction in the Osteogenesis imperfecta mouse model Aga2 and human patients are caused by bone-independent mechanisms. 22589248

2012
dbSNP: rs66619856
rs66619856
COL1A2
A 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs66619856
rs66619856
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: rs66619856
rs66619856
COL1A2
A 0.700 CausalMutation CLINVAR Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. 16705691

2006
dbSNP: rs66619856
rs66619856
COL1A2
A 0.700 CausalMutation CLINVAR The human type I collagen mutation database. 9016532

1997
dbSNP: rs66619856
rs66619856
COL1A2
A 0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs66619856
rs66619856
COL1A2
A 0.700 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993