Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555572640
rs1555572640
G 0.700 CausalMutation CLINVAR DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. 27509835

2016

dbSNP: rs1555572640
rs1555572640
G 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009

dbSNP: rs1555572640
rs1555572640
G 0.700 CausalMutation CLINVAR Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. 18996919

2009

dbSNP: rs1555572640
rs1555572640
G 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: rs1555572640
rs1555572640
G 0.700 CausalMutation CLINVAR The human type I collagen mutation database. 9016532

1997

dbSNP: rs1555572640
rs1555572640
G 0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994

dbSNP: rs1555572640
rs1555572640
G 0.700 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993

dbSNP: rs1555572640
rs1555572640
G 0.700 CausalMutation CLINVAR Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA. 3403550

1988