rs2066462
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs2066462(C;T) |
Make rs2066462(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 1 |
Position | 11794839 |
Gene | MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs2066462 |
dbSNP (classic) | rs2066462 |
ClinGen | rs2066462 |
ebi | rs2066462 |
HLI | rs2066462 |
Exac | rs2066462 |
Gnomad | rs2066462 |
Varsome | rs2066462 |
LitVar | rs2066462 |
Map | rs2066462 |
PheGenI | rs2066462 |
Biobank | rs2066462 |
1000 genomes | rs2066462 |
hgdp | rs2066462 |
ensembl | rs2066462 |
geneview | rs2066462 |
scholar | rs2066462 |
rs2066462 | |
pharmgkb | rs2066462 |
gwascentral | rs2066462 |
openSNP | rs2066462 |
23andMe | rs2066462 |
SNPshot | rs2066462 |
SNPdbe | rs2066462 |
MSV3d | rs2066462 |
GWAS Ctlg | rs2066462 |
GMAF | 0.08815 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
[PMID 20863444] Associations between the genetic polymorphisms of MTHFR and outcomes of methotrexate treatment in rheumatoid arthritis
[PMID 22241680] Deep sequencing study of the MTHFR gene to identify variants associated with myelomeningocele
[PMID 18538037] A simple and accurate SNP scoring strategy based on typeIIS restriction endonuclease cleavage and matrix-assisted laser desorption/ionization mass spectrometry.
[PMID 23270270] [Analysis of the MTHFR gene linkage disequilibrium structure and association of polymorphic gene variants with coronary atherosclerosis]
ClinVar | |
---|---|
Risk | rs2066462(T;T) |
Alt | rs2066462(T;T) |
Reference | Rs2066462(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.11854896G>A |
CLNSRC | |
CLNACC | RCV000287984.1, RCV000441116.1, |