COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Osteogenesis Imperfecta ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922139
rs193922139
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0029434
Disease:
Osteogenesis Imperfecta 		T 0.700 GeneticVariation CLINVAR Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen. 25963598 2015