FOLR1, folate receptor alpha, 2348

N. diseases: 174; N. variants: 8
Disease: Neural Tube Defects ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs371399726
rs371399726
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
CUI: C0027794
Disease:
Neural Tube Defects 		0.020 GeneticVariation BEFREE Previous studies have demonstrated that both homozygosity for the C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene, and combined heterozygosity for the C677T and for another mutation in the same gene, the A1298C polymorphism, represent genetic risk factors for NTDs. 11102926 2000
dbSNP: rs371399726
rs371399726
Entrez Id: 2348
Gene Symbol: FOLR1
FOLR1
CUI: C0027794
Disease:
Neural Tube Defects 		0.020 GeneticVariation BEFREE Recently we discovered the first genetic risk factors for NTDs: the 677 C-->T and the 1298 A-->C mutations in the methylenetetrahydrofolate reductase gene explaining at the most 35-50% of the protective effect of folate. 10234517 1999