rs200100285
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs200100285(C;C) |
Make rs200100285(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 11796313 |
Gene | MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs200100285 |
dbSNP (classic) | rs200100285 |
ClinGen | rs200100285 |
ebi | rs200100285 |
HLI | rs200100285 |
Exac | rs200100285 |
Gnomad | rs200100285 |
Varsome | rs200100285 |
LitVar | rs200100285 |
Map | rs200100285 |
PheGenI | rs200100285 |
Biobank | rs200100285 |
1000 genomes | rs200100285 |
hgdp | rs200100285 |
ensembl | rs200100285 |
geneview | rs200100285 |
scholar | rs200100285 |
rs200100285 | |
pharmgkb | rs200100285 |
gwascentral | rs200100285 |
openSNP | rs200100285 |
23andMe | rs200100285 |
SNPshot | rs200100285 |
SNPdbe | rs200100285 |
MSV3d | rs200100285 |
GWAS Ctlg | rs200100285 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs200100285(C;C) rs200100285(G;G) |
Alt | rs200100285(C;C) rs200100285(G;G) |
Reference | Rs200100285(T;T) |
Significance | Pathogenic |
Disease | Neural tube defects Homocysteinemia due to MTHFR deficiency |
Variation | info |
Gene | MTHFR |
CLNDBN | Neural tube defects, folate-sensitive Homocysteinemia due to MTHFR deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.11856370T>C; NC_000001.10:g.11856370T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000361645.1, RCV000167599.1, |