FOLR2, folate receptor beta, 2350

N. diseases: 105; N. variants: 4
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2298444
rs2298444
Entrez Id: 2350
Gene Symbol: FOLR2
FOLR2
CUI: C1510586
Disease:
Autism Spectrum Disorders
0.010 GeneticVariation BEFREE ASD probands showed a higher frequency of rs2298444 'A' allele (P = 0.01) and genotypes with 'A' allele (P = 0.03) when compared with the controls. rs1801198 'C' allele and 'CG' genotype also showed higher occurrence in the probands (P = 0.009 and 0.005, respectively). 30676283 2019
dbSNP: rs2298444
rs2298444
Entrez Id: 2350
Gene Symbol: FOLR2
FOLR2
CUI: C1862389
Disease:
ATRIAL SEPTAL DEFECT 1
0.010 GeneticVariation BEFREE ASD probands showed a higher frequency of rs2298444 'A' allele (P = 0.01) and genotypes with 'A' allele (P = 0.03) when compared with the controls. rs1801198 'C' allele and 'CG' genotype also showed higher occurrence in the probands (P = 0.009 and 0.005, respectively). 30676283 2019
dbSNP: rs2298444
rs2298444
Entrez Id: 2350
Gene Symbol: FOLR2
FOLR2
CUI: C0018817
Disease:
Atrial Septal Defects
0.010 GeneticVariation BEFREE ASD probands showed a higher frequency of rs2298444 'A' allele (P = 0.01) and genotypes with 'A' allele (P = 0.03) when compared with the controls. rs1801198 'C' allele and 'CG' genotype also showed higher occurrence in the probands (P = 0.009 and 0.005, respectively). 30676283 2019
dbSNP: rs13908
rs13908
Entrez Id: 2350
Gene Symbol: FOLR2
FOLR2
CUI: C0025312
Disease:
Meningomyelocele
0.010 GeneticVariation BEFREE A variant in the FOLR2 gene (rs13908), three linked variants in the FOLR3 gene (rs7925545, rs7926875, rs7926987), and two variants in the SLC19A1 gene (rs1888530 and rs3788200) were statistically significant for association to MM in our population. 20683905 2010
dbSNP: rs651646
rs651646
Entrez Id: 2350
Gene Symbol: FOLR2
FOLR2
CUI: C0027794
Disease:
Neural Tube Defects
0.010 GeneticVariation BEFREE In conclusion, SNP rs651646 within the FRbeta gene is polymorphic but is not associated with neural tube defects within the Irish population. 12809644 2003
dbSNP: rs1203798584
rs1203798584
Entrez Id: 2350
Gene Symbol: FOLR2
FOLR2
CUI: C0027794
Disease:
Neural Tube Defects
0.010 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