Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs66555264
rs66555264
COL1A1
T 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs66555264
rs66555264
COL1A1
T 0.700 CausalMutation CLINVAR [Mutation detection of COL1A1 gene in a pedigree with osteogenesis imperfecta]. 15931785

2005
dbSNP: rs66555264
rs66555264
COL1A1
T 0.700 CausalMutation CLINVAR Tracking COL1A1 RNA in osteogenesis imperfecta. splice-defective transcripts initiate transport from the gene but are retained within the SC35 domain. 10931857

2000
dbSNP: rs66555264
rs66555264
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: rs66555264
rs66555264
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: rs66555264
rs66555264
COL1A1
T 0.700 CausalMutation CLINVAR Two new recurrent nucleotide mutations in the COL1A1 gene in four patients with osteogenesis imperfecta: about one-fifth are recurrent. 9067755

1997
dbSNP: rs66555264
rs66555264
COL1A1
T 0.700 CausalMutation CLINVAR Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. 7942841

1994
dbSNP: rs66555264
rs66555264
COL1A1
T 0.700 CausalMutation CLINVAR Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta. 8408653

1993