rs2071010

This is a upstream gene variant variant in the FOLR1 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

level of folate receptor alpha in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.14
p 2.0e-42
N 47,745
Large GWAS
European
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ClinVar annotation

Uncertain Significance★☆☆☆
2 submitters1 publication

Gastrointestinal stromal tumor

View on ClinVar →
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Research that mentions this SNP (2)

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Folate pathway and nonsyndromic cleft lip and palate
AssociationN=445Susan H. Blanton et al.(2011)· Birth Defects Research Part A: Clinical and Molecular Teratology

This family-based association study examined 14 folate pathway genes using 89 SNPs in 445 NSCLP families (317 non-Hispanic White, 128 Hispanic) to identify genetic variants contributing to nonsyndromic cleft lip and palate. Evidence for association was found with SNPs in NOS3 and TYMS in the non-Hispanic White group (rs2373929/NOS3, rs502396/TYMS, and others), and with MTR, BHMT2, MTHFS, and SLC19A1 in the Hispanic group (rs1422086/BHMT2, rs2115540/MTHFS significant after Bonferroni correction). Multiple gene-gene interactions were detected, with CBS and MTHFD1 showing the most extensive interactions. Significant interactions were also found between several SNPs and maternal smoking and one SNP (rs651646/FOLR2) with offspring sex.

Traits studied:NSCLPNonsyndromic cleft lip and palate
PubMedDOIMetascience Observatory
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Association of folate receptor (folr1, folr2, folr3) and reduced folate carrier (slc19a1) genes with meningomyelocele
AssociationN=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.

Traits studied:MeningomyeloceleNeural tube defectsSpina bifida
PubMedDOIMetascience Observatory

About FOLR1

The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anchors to membranes via a glycosyl-phosphatidylinositol linkage or exists in a soluble form. Mutations in this gene have been associated with neurodegeneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splicing, multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]

View all FOLR1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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