rs367585605
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs367585605(C;T) |
Make rs367585605(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 11794385 |
Gene | MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs367585605 |
dbSNP (classic) | rs367585605 |
ClinGen | rs367585605 |
ebi | rs367585605 |
HLI | rs367585605 |
Exac | rs367585605 |
Gnomad | rs367585605 |
Varsome | rs367585605 |
LitVar | rs367585605 |
Map | rs367585605 |
PheGenI | rs367585605 |
Biobank | rs367585605 |
1000 genomes | rs367585605 |
hgdp | rs367585605 |
ensembl | rs367585605 |
geneview | rs367585605 |
scholar | rs367585605 |
rs367585605 | |
pharmgkb | rs367585605 |
gwascentral | rs367585605 |
openSNP | rs367585605 |
23andMe | rs367585605 |
SNPshot | rs367585605 |
SNPdbe | rs367585605 |
MSV3d | rs367585605 |
GWAS Ctlg | rs367585605 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs367585605(T;T) |
Alt | rs367585605(T;T) |
Reference | Rs367585605(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.11854442C>T |
CLNSRC | |
CLNACC | RCV000167613.1, |