Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs66490707
rs66490707
COL1A1
T 0.700 CausalMutation CLINVAR Tooth agenesis in osteogenesis imperfecta related to mutations in the collagen type I genes. 27510842

2017
dbSNP: rs66490707
rs66490707
COL1A1
T 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs66490707
rs66490707
COL1A1
T 0.700 CausalMutation CLINVAR Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen. 25963598

2015
dbSNP: rs66490707
rs66490707
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: rs66490707
rs66490707
COL1A1
T 0.700 CausalMutation CLINVAR Audiometric, surgical, and genetic findings in 15 ears of patients with osteogenesis imperfecta. 19358256

2009
dbSNP: rs66490707
rs66490707
COL1A1
T 0.700 CausalMutation CLINVAR High proportion of mutant osteoblasts is compatible with normal skeletal function in mosaic carriers of osteogenesis imperfecta. 15024692

2004
dbSNP: rs66490707
rs66490707
COL1A1
T 0.700 CausalMutation CLINVAR COL1A1 mutation analysis in Lithuanian patients with osteogenesis imperfecta. 12590186

2003
dbSNP: rs66490707
rs66490707
COL1A1
T 0.700 CausalMutation CLINVAR Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations. 9443882

1998
dbSNP: rs66490707
rs66490707
COL1A1
T 0.700 CausalMutation CLINVAR Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. 9295084

1997
dbSNP: rs66490707
rs66490707
COL1A1
T 0.700 CausalMutation CLINVAR Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. 7942841

1994
dbSNP: rs66490707
rs66490707
COL1A1
G 0.700 CausalMutation CLINVAR