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: rs66548636
rs66548636
Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C0029434
Disease:
Osteogenesis Imperfecta 		0.010 GeneticVariation BEFREE A novel Gly to Arg substitution at position 388 of the alpha1 chain of type I collagen in lethal form of osteogenesis imperfecta. 12362986 2002