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rs2066470

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs2066470(C;T)
Make rs2066470(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position11803000
GeneMTHFR
is asnp
is mentioned by
dbSNPrs2066470
dbSNP (classic)rs2066470
ClinGenrs2066470
ebirs2066470
HLIrs2066470
Exacrs2066470
Gnomadrs2066470
Varsomers2066470
LitVarrs2066470
Maprs2066470
PheGenIrs2066470
Biobankrs2066470
1000 genomesrs2066470
hgdprs2066470
ensemblrs2066470
geneviewrs2066470
scholarrs2066470
googlers2066470
pharmgkbrs2066470
gwascentralrs2066470
openSNPrs2066470
23andMers2066470
SNPshotrs2066470
SNPdbers2066470
MSV3drs2066470
GWAS Ctlgrs2066470
GMAF0.08678
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Associated with lean body mass but not fat body mass in a study of ~1,800 Caucasians [PMID 18180959]


[PMID 19593234OA-icon.png] Association analyses suggest multiple interaction effects of the methylenetetrahydrofolate reductase polymorphisms on timing of menarche and natural menopause in white women


[PMID 18538037OA-icon.png] A simple and accurate SNP scoring strategy based on typeIIS restriction endonuclease cleavage and matrix-assisted laser desorption/ionization mass spectrometry.


[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


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


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


[PMID 20078877OA-icon.png] Gene polymorphisms in association with emerging cardiovascular risk markers in adult women.


ClinVar
Risk rs2066470(G;G) rs2066470(T;T)
Alt rs2066470(G;G) rs2066470(T;T)
Reference Rs2066470(C;C)
Significance Probable-non-pathogenic
Disease Neural tube defects not specified
Variation info
Gene MTHFR
CLNDBN Neural tube defects, folate-sensitive not specified
Reversed 1
HGVS NC_000001.10:g.11863057G>A
CLNSRC
CLNACC RCV000355803.1, RCV000420664.1,