Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72645368
rs72645368
COL1A1
T 0.700 CausalMutation CLINVAR Bulbous epiphysis and popcorn calcification as related to growth plate differentiation in osteogenesis imperfecta. 26604951

2015
dbSNP: rs72645368
rs72645368
COL1A1
T 0.700 CausalMutation CLINVAR The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. 21667357

2012
dbSNP: rs72645368
rs72645368
COL1A1
T 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: rs72645368
rs72645368
COL1A1
T 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs72645368
rs72645368
COL1A1
T 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: rs72645368
rs72645368
COL1A1
T 0.700 CausalMutation CLINVAR The human type I collagen mutation database. 9016532

1997
dbSNP: rs72645368
rs72645368
COL1A1
T 0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs72645368
rs72645368
COL1A1
T 0.700 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993