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rs1950902

From SNPedia

Orientationminus
Stabilizedminus
Make rs1950902(C;C)
Make rs1950902(C;T)
Make rs1950902(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position64415662
GeneMTHFD1
is asnp
is mentioned by
dbSNPrs1950902
ebirs1950902
HLIrs1950902
Exacrs1950902
Varsomers1950902
Maprs1950902
PheGenIrs1950902
hapmaprs1950902
1000 genomesrs1950902
hgdprs1950902
ensemblrs1950902
gopubmedrs1950902
geneviewrs1950902
scholarrs1950902
googlers1950902
pharmgkbrs1950902
gwascentralrs1950902
openSNPrs1950902
23andMers1950902
23andMe allrs1950902
SNP Nexus

SNPshotrs1950902
SNPdbers1950902
MSV3drs1950902
GWAS Ctlgrs1950902
GMAF0.191
Max Magnitude
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene MTHFD1
allele G
frequency 0.792
sift TOLERATED
HuRef 1103649084604
Disease Association Defects in MTHFD1 may be associated with elevated risk for neural tube defects (NTD) such as spina bifida.



[PMID 20737570] Genetic variants in one-carbon metabolism-related genes contribute to NSCLC prognosis in a Chinese population


[PMID 12384833OA-icon.png] A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group.


[PMID 19064578OA-icon.png] No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.


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


[PMID 17548676] Association of polymorphisms in one-carbon metabolism genes and postmenopausal breast cancer incidence.


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


[PMID 20570913OA-icon.png] Genetic variation in TYMS in the one-carbon transfer pathway is associated with ovarian carcinoma types in the Ovarian Cancer Association Consortium.


GET Evidence
MTHFD1-K134R
aa_change Lys134Arg
aa_change_short K134R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.830638
summary



[PMID 25039261] Association Study of MTHFD1 Coding Polymorphisms R134K and R653Q With Migraine Susceptibility