Gene: COL1A1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1328384458
rs1328384458
COL1A1
T 0.700 GeneticVariation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993
dbSNP: rs1328384458
rs1328384458
COL1A1
T 0.700 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs1328384458
rs1328384458
COL1A1
T 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: rs1328384458
rs1328384458
COL1A1
T 0.700 GeneticVariation CLINVAR The human type I collagen mutation database. 9016532

1997
dbSNP: rs1328384458
rs1328384458
COL1A1
T 0.700 GeneticVariation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs1555571755
rs1555571755
COL1A1
T 0.700 GeneticVariation CLINVAR Mutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients. 24147872

2014
dbSNP: rs1555572013
rs1555572013
COL1A1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555572161
rs1555572161
COL1A1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555574113
rs1555574113
COL1A1
TA 0.700 GeneticVariation CLINVAR

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 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 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
dbSNP: rs1555574303
rs1555574303
COL1A1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555574493
rs1555574493
COL1A1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555574496
rs1555574496
COL1A1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555574641
rs1555574641
COL1A1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555575857
rs1555575857
COL1A1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1567753699
rs1567753699
COL1A1
T 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: rs1567753699
rs1567753699
COL1A1
T 0.700 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs1567753699
rs1567753699
COL1A1
T 0.700 GeneticVariation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993
dbSNP: rs1567753699
rs1567753699
COL1A1
T 0.700 GeneticVariation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs1567753699
rs1567753699
COL1A1
T 0.700 GeneticVariation CLINVAR The human type I collagen mutation database. 9016532

1997
dbSNP: rs1567760604
rs1567760604
COL1A1
G 0.700 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994