Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs67815019
rs67815019
COL1A1
T 0.700 CausalMutation CLINVAR Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta. 28116328

2017
dbSNP: rs67815019
rs67815019
COL1A1
T 0.700 CausalMutation CLINVAR Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family. 26712438

2016
dbSNP: rs67815019
rs67815019
COL1A1
T 0.700 CausalMutation CLINVAR Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta. 26627451

2015
dbSNP: rs67815019
rs67815019
COL1A1
T 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 26177859

2015
dbSNP: rs67815019
rs67815019
COL1A1
T 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380

2015
dbSNP: rs67815019
rs67815019
COL1A1
T 0.700 CausalMutation 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