rs147257424
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs147257424(C;T) |
Make rs147257424(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 11801299 |
Gene | MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs147257424 |
dbSNP (classic) | rs147257424 |
ClinGen | rs147257424 |
ebi | rs147257424 |
HLI | rs147257424 |
Exac | rs147257424 |
Gnomad | rs147257424 |
Varsome | rs147257424 |
LitVar | rs147257424 |
Map | rs147257424 |
PheGenI | rs147257424 |
Biobank | rs147257424 |
1000 genomes | rs147257424 |
hgdp | rs147257424 |
ensembl | rs147257424 |
geneview | rs147257424 |
scholar | rs147257424 |
rs147257424 | |
pharmgkb | rs147257424 |
gwascentral | rs147257424 |
openSNP | rs147257424 |
23andMe | rs147257424 |
SNPshot | rs147257424 |
SNPdbe | rs147257424 |
MSV3d | rs147257424 |
GWAS Ctlg | rs147257424 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147257424(A;A) rs147257424(T;T) |
Alt | rs147257424(A;A) rs147257424(T;T) |
Reference | Rs147257424(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.11861356C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000167592.1, |