Source: CURATED

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs193922139
rs193922139
COL1A1
CUI: C0029434
Disease: Osteogenesis Imperfecta
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