rs574132670
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs574132670(C;T) |
Make rs574132670(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 11800250 |
Gene | MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs574132670 |
dbSNP (classic) | rs574132670 |
ClinGen | rs574132670 |
ebi | rs574132670 |
HLI | rs574132670 |
Exac | rs574132670 |
Gnomad | rs574132670 |
Varsome | rs574132670 |
LitVar | rs574132670 |
Map | rs574132670 |
PheGenI | rs574132670 |
Biobank | rs574132670 |
1000 genomes | rs574132670 |
hgdp | rs574132670 |
ensembl | rs574132670 |
geneview | rs574132670 |
scholar | rs574132670 |
rs574132670 | |
pharmgkb | rs574132670 |
gwascentral | rs574132670 |
openSNP | rs574132670 |
23andMe | rs574132670 |
SNPshot | rs574132670 |
SNPdbe | rs574132670 |
MSV3d | rs574132670 |
GWAS Ctlg | rs574132670 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs574132670(T;T) |
Alt | rs574132670(T;T) |
Reference | Rs574132670(C;C) |
Significance | Pathogenic |
Disease | Homocysteinemia due to MTHFR deficiency |
Variation | info |
Gene | MTHFR |
CLNDBN | Homocysteinemia due to MTHFR deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.11860307C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000167596.1, |