Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs67507747
rs67507747
COL1A1
T 0.700 CausalMutation CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842

2017
dbSNP: rs67507747
rs67507747
COL1A1
A 0.700 CausalMutation CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842

2017
dbSNP: rs67507747
rs67507747
COL1A1
T 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs67507747
rs67507747
COL1A1
A 0.700 CausalMutation CLINVAR Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. 24668929

2014
dbSNP: rs67507747
rs67507747
COL1A1
T 0.700 CausalMutation CLINVAR Mutation spectrum of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. 24668929

2014
dbSNP: rs67507747
rs67507747
COL1A1
T 0.700 CausalMutation CLINVAR Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: application for diagnosis of osteogenesis imperfecta. 22753364

2012
dbSNP: rs67507747
rs67507747
COL1A1
A 0.700 CausalMutation CLINVAR Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: application for diagnosis of osteogenesis imperfecta. 22753364

2012
dbSNP: rs67507747
rs67507747
COL1A1
T 0.700 CausalMutation CLINVAR A G560S mutation in alpha1 (I) collagen causes familial osteogenesis imperfecta type IV. 19751715

2009
dbSNP: rs67507747
rs67507747
COL1A1
A 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs67507747
rs67507747
COL1A1
T 0.700 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs67507747
rs67507747
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: rs67507747
rs67507747
COL1A1
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: rs67507747
rs67507747
COL1A1
A 0.700 CausalMutation CLINVAR Molecular findings in Brazilian patients with osteogenesis imperfecta. 15741671

2005
dbSNP: rs67507747
rs67507747
COL1A1
T 0.700 CausalMutation CLINVAR Molecular findings in Brazilian patients with osteogenesis imperfecta. 15741671

2005
dbSNP: rs67507747
rs67507747
COL1A1
T 0.700 CausalMutation CLINVAR The human type I collagen mutation database. 9016532

1997
dbSNP: rs67507747
rs67507747
COL1A1
A 0.700 CausalMutation CLINVAR The human type I collagen mutation database. 9016532

1997
dbSNP: rs67507747
rs67507747
COL1A1
A 0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs67507747
rs67507747
COL1A1
T 0.700 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs67507747
rs67507747
COL1A1
A 0.700 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993
dbSNP: rs67507747
rs67507747
COL1A1
A 0.700 CausalMutation CLINVAR An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta. 7691343

1993
dbSNP: rs67507747
rs67507747
COL1A1
T 0.700 CausalMutation CLINVAR An RT-PCR-SSCP screening strategy for detection of mutations in the gene encoding the alpha 1 chain of type I collagen: application to four patients with osteogenesis imperfecta. 7691343

1993
dbSNP: rs67507747
rs67507747
COL1A1
T 0.700 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993