rs1054264002, COL1A2

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteogenesis imperfecta type IV (disorder)
CUI: C0268363
Disease: Osteogenesis imperfecta type IV (disorder)
0.010 GeneticVariation BEFREE In the other couple, referred for PGD for OI type IV, the male partner carried a G to A substitution in exon 19 of the COL1A2 gene, which results in an abnormal gene product due to an alphaGly247 (GGT) to Ser (AGT) substitution (G247S). 10942108 2000