rs746353274
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CTT;CTT) | 0 | common in clinvar |
Make rs746353274(-;-) |
Make rs746353274(-;CTT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 11796341 |
Gene | MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs746353274 |
dbSNP (classic) | rs746353274 |
ClinGen | rs746353274 |
ebi | rs746353274 |
HLI | rs746353274 |
Exac | rs746353274 |
Gnomad | rs746353274 |
Varsome | rs746353274 |
LitVar | rs746353274 |
Map | rs746353274 |
PheGenI | rs746353274 |
Biobank | rs746353274 |
1000 genomes | rs746353274 |
hgdp | rs746353274 |
ensembl | rs746353274 |
geneview | rs746353274 |
scholar | rs746353274 |
rs746353274 | |
pharmgkb | rs746353274 |
gwascentral | rs746353274 |
openSNP | rs746353274 |
23andMe | rs746353274 |
SNPshot | rs746353274 |
SNPdbe | rs746353274 |
MSV3d | rs746353274 |
GWAS Ctlg | rs746353274 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs746353274(-;-) |
Alt | rs746353274(-;-) |
Reference | Rs746353274(CTT;CTT) |
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.11856398_11856400delCTT |
CLNSRC | |
CLNACC | RCV000167598.1, |