COL1A2, collagen type I alpha 2 chain, 1278

N. diseases: 271; N. variants: 178
Disease: Osteogenesis imperfecta, dominant perinatal lethal ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912902
rs121912902
Entrez Id: 1278
Gene Symbol: COL1A2
COL1A2
CUI: C0268358
Disease:
Osteogenesis imperfecta, dominant perinatal lethal 		0.010 GeneticVariation BEFREE One was a lethal substitution changing glycine 866 to serine in genetically identical twins with OI type II. 18670065 2008