Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs5742905
rs5742905
CBS
CUI: C0242699
Disease: Bone Demineralization, Pathologic
Bone Demineralization, Pathologic 		0.010 GeneticVariation BEFREE The finding that the two patients who are homozygous for I278T have only ectopia lentis and mild bone demineralization suggests that this mutation is associated with both in vivo pyridoxine responsiveness and mild clinical disease. 7611293

1995