rs2847326

This is a downstream gene variant variant in the ENOSF1 gene.

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Research that mentions this SNP (2)

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Conotruncal heart defects and common variants in maternal and fetal genes in folate, homocysteine, and transsulfuration pathways
AssociationN=4,648Charlotte A. Hobbs et al.(2014)· Birth Defects Research Part A: Clinical and Molecular Teratology

This case-control study of 616 conotruncal heart defect (CTD) case families and 1,645 control families identified 17 maternal and 17 fetal SNPs associated with CTD risk (BFDP ≤0.80). Key findings included 10 maternal SNPs in GCLC (rs572494 with BFDP=0.15), 4 fetal SNPs in TYMS (rs2612101, rs2847607, rs2847326, rs2847324), and evidence that maternal periconceptional folic acid supplementation modified SNP-CTD associations. The study evaluated 921 SNPs across 60 genes in folate, homocysteine, and transsulfuration pathways.

Traits studied:Conotruncal heart defectsConoventricular septal defectsD-transposition of the great arteriesDouble outlet right ventricleInterrupted aortic arch type BTetralogy of FallotTruncus arteriosus
PubMedDOIMetascience Observatory
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Maternal and infant gene–folate interactions and the risk of neural tube defects
AssociationN=676Analee J. Etheredge et al.(2012)· American Journal of Medical Genetics Part A

Case-control study (222 cases, 454 controls) examining gene-folate interactions in five folate-related genes (MTHFD1, MTHFR, SHMT1, DHFR, TYMS) and neural tube defect risk. Maternal MTHFR SNPs rs1476413, rs1801131, and rs1801133 showed decreased NTD risk with low folate intake (OR=0.55-0.69, 80% CI); infant MTHFD1 SNPs rs2236224, rs2236225, and rs11627387 showed increased risk (OR=1.53-4.25, 80% CI); maternal SHMT1 rs669340 showed protective gene-only effect (OR=0.69, 95% CI: 0.49-0.96).

Traits studied:AnencephalyNeural tube defectsSpina bifida
PubMedDOIMetascience Observatory

About ENOSF1

This gene can encode a mitochondrial enzyme that is thought to convert L-fuconate to 2-keto-3-deoxy-L-fuconate. This locus was originally identified as the source of antisense RNAs of the adjacent thymidylate synthase gene. Splice variants at this locus may contain an alternate 3' exon that is complementary to the 3'UTR and terminal intron of the thymidylate synthase (TS) RNA and may downregulate TS expression. [provided by RefSeq, Aug 2017]

View all ENOSF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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