rs67394386, COL1A1

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteogenesis imperfecta type III (disorder)
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
0.700 CausalMutation CLINVAR Genetic epidemiology, prevalence, and genotype-phenotype correlations in the Swedish population with osteogenesis imperfecta. 25944380 2015
Prominent forehead
CUI: C1837260
Disease: Prominent forehead
0.700 CausalMutation CLINVAR
Narrow thorax
CUI: C0426790
Disease: Narrow thorax
0.700 CausalMutation CLINVAR