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rs1051266

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1051266(A;G)
Make rs1051266(G;G)
ReferenceGRCh38 38.1/141
Chromosome21
Position45537880
GeneSLC19A1
is asnp
is mentioned by
dbSNPrs1051266
ebirs1051266
HLIrs1051266
Exacrs1051266
Varsomers1051266
Maprs1051266
PheGenIrs1051266
hapmaprs1051266
1000 genomesrs1051266
hgdprs1051266
ensemblrs1051266
gopubmedrs1051266
geneviewrs1051266
scholarrs1051266
googlers1051266
pharmgkbrs1051266
gwascentralrs1051266
openSNPrs1051266
23andMers1051266
23andMe allrs1051266
SNP Nexus

SNPshotrs1051266
SNPdbers1051266
MSV3drs1051266
GWAS Ctlgrs1051266
GMAF0.4913
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
SLC19A1-H27R
aa_change His27Arg
aa_change_short H27R
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.504476
summary



[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


ClinVar
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,