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From SNPedia

Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1051266(A;G)
Make rs1051266(G;G)
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs1051266
23andMe allrs1051266
SNP Nexus

GWAS Ctlgrs1051266
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs1051266 (Arg27Cys, 80G>A) is a snp within SLC19A1 (Solute carrier family 19 (folate transporter), member 1).

[PMID 19172696] Cys (A) allele associated with reduced plasma folate

[PMID 19650776OA-icon.png] women with GA and AA genotypes had higher red blood cell folate concentrations, not significantly associated with serum folate or homocysteine levels

[PMID 18316334] methotrexate (antifolate drug) uptake lowest in individuals with GG genotype than those with GA or AA genotypes

[PMID 20037791OA-icon.png] Genes involved with folate uptake and distribution and their association with colorectal cancer risk

[PMID 20233025] The SLC19A1 80G>A polymorphism is not associated with male infertility

[PMID 20718043OA-icon.png] Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome

[PMID 21274745OA-icon.png] Variation in folate pathway genes and distal colorectal adenoma risk: a sigmoidoscopy-based case-control study

[PMID 17035141OA-icon.png] Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.

[PMID 17366837OA-icon.png] Genetic studies of a cluster of acute lymphoblastic leukemia cases in Churchill County, Nevada.

[PMID 17852831] Genotyping of the reduced folate carrier-1 c.80G>A polymorphism by pyrosequencing technology: importance of PCR and pre-PCR optimization.

[PMID 18182569OA-icon.png] Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group.

[PMID 18203168OA-icon.png] Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.

[PMID 18521744OA-icon.png] BRCA1 promoter methylation is associated with increased mortality among women with breast cancer.

[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.

[PMID 18708404OA-icon.png] B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer.

[PMID 18842806OA-icon.png] Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations.

[PMID 19193698OA-icon.png] Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate.

[PMID 19252927OA-icon.png] Bladder cancer SNP panel predicts susceptibility and survival.

[PMID 19376481OA-icon.png] One-carbon metabolism and breast cancer: an epidemiological perspective.

[PMID 19493349OA-icon.png] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.

[PMID 19706844] Association of folate-pathway gene polymorphisms with the risk of prostate cancer: a population-based nested case-control study, systematic review, and meta-analysis.

[PMID 20472929] Folate pathway enzyme gene polymorphisms and the efficacy and toxicity of methotrexate in psoriatic arthritis.

[PMID 20511665OA-icon.png] Candidate gene association studies and risk of childhood acute lymphoblastic leukemia: a systematic review and meta-analysis.

[PMID 20661649] A80G polymorphism of reduced folate carrier 1 (RFC1) gene and head and neck squamous cell carcinoma etiology in Brazilian population.

[PMID 20890936] Maternal polymorphisms in folic acid metabolic genes are associated with nonsyndromic cleft lip and/or palate in the Brazilian population.

GET Evidence
aa_change His27Arg
aa_change_short H27R
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.504476

[PMID 23148635] Genetic variation in the SLC19A1 gene and methotrexate toxicity in rheumatoid arthritis patients

[PMID 24554143] Serum Folic Acid and RFC A80G Polymorphism in Alzheimer's Disease and Vascular Dementia

[PMID 22021659OA-icon.png] Genetic variation throughout the folate metabolic pathway influences negative symptom severity in schizophrenia.

[PMID 22859359] ABCB1 and ABCC3 gene polymorphisms are associated with first-year response to methotrexate in juvenile idiopathic arthritis.

[PMID 22890010] Association of COMT, MTHFR, and SLC19A1(RFC-1) polymorphisms with homocysteine blood levels and cognitive impairment in Parkinson's disease.

[PMID 24782176] RFC1 80G>A Is a Genetic Determinant of Methotrexate Efficacy in Rheumatoid Arthritis: A Human Genome Epidemiologic Review and Meta-Analysis of Observational Studies

[PMID 24917213] Interaction between the SLC19A1 Gene and maternal first trimester fever on offspring neural tube defects

[PMID 25124723] SLC19A1, SLC46A1 and SLCO1B1 Polymorphisms As Predictors Of Methotrexate-Related Toxicity In Portuguese Rheumatoid Arthritis Patients

Risk rs1051266(G;G)
Alt rs1051266(G;G)
Reference rs1051266(A;A)
Significance Unknown
Disease Gastrointestinal stromal tumor
Variation info
Gene SLC19A1
CLNDBN Gastrointestinal stromal tumor
Reversed 1
HGVS NC_000021.8:g.46957794T>C
CLNSRC ClinVar University of Bologna
CLNACC RCV000144916.1,