|(A;A)||0||common in clinvar|
[PMID 19650776] women with GA and AA genotypes had higher red blood cell folate concentrations, not significantly associated with serum folate or homocysteine levels
[PMID 20037791] 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 20718043] Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome
[PMID 21274745] Variation in folate pathway genes and distal colorectal adenoma risk: a sigmoidoscopy-based case-control study
[PMID 17035141] Neural tube defects and folate pathway genes: family-based association tests of gene-gene and gene-environment interactions.
[PMID 17366837] 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 18182569] Pharmacogenetics of minimal residual disease response in children with B-precursor acute lymphoblastic leukemia: a report from the Children's Oncology Group.
[PMID 18203168] Folate and one-carbon metabolism gene polymorphisms and their associations with oral facial clefts.
[PMID 18521744] BRCA1 promoter methylation is associated with increased mortality among women with breast cancer.
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18708404] B-vitamin intake, one-carbon metabolism, and survival in a population-based study of women with breast cancer.
[PMID 18842806] Associations between single nucleotide polymorphisms in folate uptake and metabolizing genes with blood folate, homocysteine, and DNA uracil concentrations.
[PMID 19193698] Investigation of candidate polymorphisms and disease activity in rheumatoid arthritis patients on methotrexate.
[PMID 19252927] Bladder cancer SNP panel predicts susceptibility and survival.
[PMID 19376481] One-carbon metabolism and breast cancer: an epidemiological perspective.
[PMID 19493349] 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 20511665] 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.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
[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 22021659] 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
|Disease||Gastrointestinal stromal tumor|
|CLNDBN||Gastrointestinal stromal tumor|
|CLNSRC||ClinVar University of Bologna|