Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4816
rs4816
Entrez Id: 5110
Gene Symbol: PCMT1
PCMT1
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
dbSNP: rs4816
rs4816
Entrez Id: 5110
Gene Symbol: PCMT1
PCMT1
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
dbSNP: rs7818
rs7818
Entrez Id: 5110
Gene Symbol: PCMT1
PCMT1
CUI: C0699791
Disease:
Stomach Carcinoma 		0.010 GeneticVariation BEFREE This study suggests that the SNPs of IFRD1 rs7818 and rs6968084 have nothing to do with the gastric cancer susceptibility. 25073439 2014
dbSNP: rs7818
rs7818
Entrez Id: 5110
Gene Symbol: PCMT1
PCMT1
CUI: C0024623
Disease:
Malignant neoplasm of stomach 		0.010 GeneticVariation BEFREE This study suggests that the SNPs of IFRD1 rs7818 and rs6968084 have nothing to do with the gastric cancer susceptibility. 25073439 2014
dbSNP: rs4552
rs4552
Entrez Id: 5110
Gene Symbol: PCMT1
PCMT1
CUI: C0080178
Disease:
Spina Bifida 		0.010 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
dbSNP: rs4816
rs4816
Entrez Id: 5110
Gene Symbol: PCMT1
PCMT1
CUI: C0027794
Disease:
Neural Tube Defects 		0.010 GeneticVariation BEFREE We hypothesized that a known functional polymorphism (Ile120Val) in the human PCMT1 gene is associated with an increased risk of folate-responsive human NTDs. 16256389 2006