rs2066470
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs2066470(C;T) |
Make rs2066470(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 11803000 |
Gene | MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs2066470 |
dbSNP (classic) | rs2066470 |
ClinGen | rs2066470 |
ebi | rs2066470 |
HLI | rs2066470 |
Exac | rs2066470 |
Gnomad | rs2066470 |
Varsome | rs2066470 |
LitVar | rs2066470 |
Map | rs2066470 |
PheGenI | rs2066470 |
Biobank | rs2066470 |
1000 genomes | rs2066470 |
hgdp | rs2066470 |
ensembl | rs2066470 |
geneview | rs2066470 |
scholar | rs2066470 |
rs2066470 | |
pharmgkb | rs2066470 |
gwascentral | rs2066470 |
openSNP | rs2066470 |
23andMe | rs2066470 |
SNPshot | rs2066470 |
SNPdbe | rs2066470 |
MSV3d | rs2066470 |
GWAS Ctlg | rs2066470 |
GMAF | 0.08678 |
Max Magnitude | 0 |
? | (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 19593234] Association analyses suggest multiple interaction effects of the methylenetetrahydrofolate reductase polymorphisms on timing of menarche and natural menopause in white women
[PMID 18538037] A simple and accurate SNP scoring strategy based on typeIIS restriction endonuclease cleavage and matrix-assisted laser desorption/ionization mass spectrometry.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 19064578] No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.
[PMID 19493349] 118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
[PMID 20078877] 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, |