COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Lobstein Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72648337
rs72648337
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease:
Lobstein Disease 		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: rs72648337
rs72648337
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease:
Lobstein Disease 		T 0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380 2015
dbSNP: rs72648337
rs72648337
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease:
Lobstein Disease 		T 0.700 CausalMutation CLINVAR Genotype and phenotype analysis of Taiwanese patients with osteogenesis imperfecta. 26627451 2015
dbSNP: rs72648337
rs72648337
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease:
Lobstein Disease 		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: rs72648337
rs72648337
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease:
Lobstein Disease 		T 0.700 CausalMutation CLINVAR Osteogenesis Imperfecta: the audiological phenotype lacks correlation with the genotype. 22206639 2011
dbSNP: rs72648337
rs72648337
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease:
Lobstein Disease 		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
dbSNP: rs72648337
rs72648337
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0023931
Disease:
Lobstein Disease 		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