rs786204009
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786204009(C;T) |
Make rs786204009(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 11801392 |
Gene | MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs786204009 |
dbSNP (classic) | rs786204009 |
ClinGen | rs786204009 |
ebi | rs786204009 |
HLI | rs786204009 |
Exac | rs786204009 |
Gnomad | rs786204009 |
Varsome | rs786204009 |
LitVar | rs786204009 |
Map | rs786204009 |
PheGenI | rs786204009 |
Biobank | rs786204009 |
1000 genomes | rs786204009 |
hgdp | rs786204009 |
ensembl | rs786204009 |
geneview | rs786204009 |
scholar | rs786204009 |
rs786204009 | |
pharmgkb | rs786204009 |
gwascentral | rs786204009 |
openSNP | rs786204009 |
23andMe | rs786204009 |
SNPshot | rs786204009 |
SNPdbe | rs786204009 |
MSV3d | rs786204009 |
GWAS Ctlg | rs786204009 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204009(T;T) |
Alt | rs786204009(T;T) |
Reference | Rs786204009(C;C) |
Significance | Pathogenic |
Disease | Homocysteinemia due to MTHFR deficiency |
Variation | info |
Gene | MTHFR |
CLNDBN | Homocysteinemia due to MTHFR deficiency |
Reversed | 1 |
HGVS | NC_000001.10:g.11861449G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000167590.1, |