Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554397975
rs1554397975
COL1A2
A 0.700 GeneticVariation CLINVAR Clinical characteristics and the identification of novel mutations of COL1A1 and COL1A2 in 61 Chinese patients with osteogenesis imperfecta. 27748872

2016
dbSNP: rs1554397975
rs1554397975
COL1A2
A 0.700 GeneticVariation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs1554397975
rs1554397975
COL1A2
A 0.700 GeneticVariation 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: rs1554397975
rs1554397975
COL1A2
A 0.700 GeneticVariation CLINVAR The human type I collagen mutation database. 9016532

1997
dbSNP: rs1554397975
rs1554397975
COL1A2
A 0.700 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs1554397975
rs1554397975
COL1A2
A 0.700 GeneticVariation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993