rs373398993
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs373398993(A;T) |
Make rs373398993(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 11796219 |
Gene | MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs373398993 |
dbSNP (classic) | rs373398993 |
ClinGen | rs373398993 |
ebi | rs373398993 |
HLI | rs373398993 |
Exac | rs373398993 |
Gnomad | rs373398993 |
Varsome | rs373398993 |
LitVar | rs373398993 |
Map | rs373398993 |
PheGenI | rs373398993 |
Biobank | rs373398993 |
1000 genomes | rs373398993 |
hgdp | rs373398993 |
ensembl | rs373398993 |
geneview | rs373398993 |
scholar | rs373398993 |
rs373398993 | |
pharmgkb | rs373398993 |
gwascentral | rs373398993 |
openSNP | rs373398993 |
23andMe | rs373398993 |
SNPshot | rs373398993 |
SNPdbe | rs373398993 |
MSV3d | rs373398993 |
GWAS Ctlg | rs373398993 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373398993(T;T) |
Alt | rs373398993(T;T) |
Reference | Rs373398993(A;A) |
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.11856276A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000167603.1, |