Gene: COL1A1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72645331
rs72645331
COL1A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs72645341
rs72645341
COL1A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs72654802
rs72654802
COL1A1
T 0.710 CausalMutation CLINVAR Recombinant collagen studies link the severe conformational changes induced by osteogenesis imperfecta mutations to the disruption of a set of interchain salt bridges. 18845533

2008
dbSNP: rs72654802
rs72654802
COL1A1
T 0.710 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs72654802
rs72654802
COL1A1
T 0.710 CausalMutation CLINVAR Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine alpha 1(I) 901 substitution in a type-I collagen gene. 1634225

1992
dbSNP: rs72654802
rs72654802
COL1A1
T 0.710 CausalMutation CLINVAR Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8. 21594610

2011
dbSNP: rs72654802
rs72654802
COL1A1
T 0.710 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs72654802
rs72654802
COL1A1
T 0.710 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 26177859

2015
dbSNP: rs72654802
rs72654802
COL1A1
T 0.710 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993
dbSNP: rs72654802
rs72654802
COL1A1
T 0.710 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs72654802
rs72654802
COL1A1
T 0.710 CausalMutation CLINVAR The missense mutation c.3235G>A was identified within exon 45 of the COL1A1 gene in a 16-year-old girl diagnosed as having OI type I; it resulted in substitution of a glycine residue (G) by a serine (S) at codon 1079 (p.G1079S). 23079818

2012
dbSNP: rs72654802
rs72654802
COL1A1
T 0.710 CausalMutation CLINVAR Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. 28810924

2017
dbSNP: rs72654802
rs72654802
COL1A1
T 0.710 CausalMutation CLINVAR Evidence that abnormal high bone mineralization in growing children with osteogenesis imperfecta is not associated with specific collagen mutations. 18311573

2008
dbSNP: rs72654802
rs72654802
COL1A1
T 0.710 CausalMutation CLINVAR DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. 27509835

2016
dbSNP: rs72654802
rs72654802
COL1A1
T 0.710 CausalMutation CLINVAR Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. 28498836

2017
dbSNP: rs72654802
rs72654802
COL1A1
T 0.710 CausalMutation CLINVAR The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. 21667357

2012
dbSNP: rs1114167374
rs1114167374
COL1A1
C 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167375
rs1114167375
COL1A1
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167377
rs1114167377
COL1A1
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167378
rs1114167378
COL1A1
T 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167379
rs1114167379
COL1A1
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167380
rs1114167380
COL1A1
C 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167381
rs1114167381
COL1A1
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167382
rs1114167382
COL1A1
T 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs1114167384
rs1114167384
COL1A1
A 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015