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

dbSNP: rs72645341
rs72645341
A 0.800 CausalMutation CLINVAR

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

2017

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

2015

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

2015

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

2011

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

2009

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

1994

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

1993

dbSNP: rs72654802
rs72654802
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: rs66490707
rs66490707
T 0.700 CausalMutation CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842

2017

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

2017

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

2017

dbSNP: rs67815019
rs67815019
T 0.700 CausalMutation CLINVAR Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta. 28116328

2017

dbSNP: rs72645347
rs72645347
A 0.700 CausalMutation CLINVAR Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review. 28102596

2017

dbSNP: rs72645370
rs72645370
C 0.700 CausalMutation CLINVAR Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients. 28810924

2017

dbSNP: rs72648337
rs72648337
T 0.700 CausalMutation CLINVAR Mutations in COL1A1 and COL1A2 and dental aberrations in children and adolescents with osteogenesis imperfecta - A retrospective cohort study. 28498836

2017

dbSNP: rs72651642
rs72651642
A 0.700 CausalMutation CLINVAR Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta. 28378289

2017

dbSNP: rs1555571766
rs1555571766
T 0.700 CausalMutation CLINVAR DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum. 27509835

2016