rs4816, PCMT1

N. diseases: 2
Disease: Spina Bifida ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
0.020 GeneticVariation BEFREE Previous study has shown that PCMT1 polymorphisms rs4552 and rs4816 of infant are associated with spina bifida in the Californian population. 22647835 2012
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
0.020 GeneticVariation BEFREE Our results showed that the Ile120Val polymorphism of PCMT1 gene is a genetic modifier for the risk of spina bifida. 16256389 2006