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 Our results showed that the Ile120Val polymorphism of PCMT1 gene is a genetic modifier for the risk of spina bifida. 16256389 2006
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