rs1888530
This is a downstream gene variant variant in the SLC19A1 gene.
▶Research that mentions this SNP (1)
▶Association of folate receptor (folr1, folr2, folr3) and reduced folate carrier (slc19a1) genes with meningomyeloceleAssociationN=610Michelle R. O'Byrne et al.(2010)· Birth Defects Research Part A: Clinical and Molecular Teratology
A family-based association study of 610 meningomyelocele cases (329 trios and 281 duos) across folate transport genes identified 10 SNPs associated with neural tube defects. Key findings include rs13908 in FOLR2 (p=0.0002, OR=0.14), three linked variants in FOLR3 (rs7925545, rs7926875, rs7926987), and two in SLC19A1 (rs1888530, p=7.28E-05, OR=0.26; rs3788200, p=0.0195, OR=0.62), suggesting rare alleles confer protection against meningomyelocele risk.
About SLC19A1
The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
View all SLC19A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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