rs769381688
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs769381688(A;A) |
Make rs769381688(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 11801257 |
Gene | MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs769381688 |
dbSNP (classic) | rs769381688 |
ClinGen | rs769381688 |
ebi | rs769381688 |
HLI | rs769381688 |
Exac | rs769381688 |
Gnomad | rs769381688 |
Varsome | rs769381688 |
LitVar | rs769381688 |
Map | rs769381688 |
PheGenI | rs769381688 |
Biobank | rs769381688 |
1000 genomes | rs769381688 |
hgdp | rs769381688 |
ensembl | rs769381688 |
geneview | rs769381688 |
scholar | rs769381688 |
rs769381688 | |
pharmgkb | rs769381688 |
gwascentral | rs769381688 |
openSNP | rs769381688 |
23andMe | rs769381688 |
SNPshot | rs769381688 |
SNPdbe | rs769381688 |
MSV3d | rs769381688 |
GWAS Ctlg | rs769381688 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769381688(A;A) |
Alt | rs769381688(A;A) |
Reference | Rs769381688(G;G) |
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.11861314G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000167593.1, |