Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555574151
rs1555574151
COL1A1
G 0.700 GeneticVariation CLINVAR Mutation analysis of the COL1A1 and COL1A2 genes in Vietnamese patients with osteogenesis imperfecta. 27519266

2016
dbSNP: rs1555574151
rs1555574151
COL1A1
G 0.700 GeneticVariation CLINVAR Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. 24668929

2014
dbSNP: rs1555574151
rs1555574151
COL1A1
G 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: rs1555574151
rs1555574151
COL1A1
G 0.700 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs1555574151
rs1555574151
COL1A1
G 0.700 GeneticVariation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993