COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Osteogenesis imperfecta type IV (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs66490707
rs66490707
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0268363
Disease:
Osteogenesis imperfecta type IV (disorder) 		T 0.700 CausalMutation CLINVAR
dbSNP: rs66490707
rs66490707
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0268363
Disease:
Osteogenesis imperfecta type IV (disorder) 		G 0.700 CausalMutation CLINVAR