rs758206023
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs758206023(C;C) |
Make rs758206023(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 11790843 |
Gene | MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs758206023 |
dbSNP (classic) | rs758206023 |
ClinGen | rs758206023 |
ebi | rs758206023 |
HLI | rs758206023 |
Exac | rs758206023 |
Gnomad | rs758206023 |
Varsome | rs758206023 |
LitVar | rs758206023 |
Map | rs758206023 |
PheGenI | rs758206023 |
Biobank | rs758206023 |
1000 genomes | rs758206023 |
hgdp | rs758206023 |
ensembl | rs758206023 |
geneview | rs758206023 |
scholar | rs758206023 |
rs758206023 | |
pharmgkb | rs758206023 |
gwascentral | rs758206023 |
openSNP | rs758206023 |
23andMe | rs758206023 |
SNPshot | rs758206023 |
SNPdbe | rs758206023 |
MSV3d | rs758206023 |
GWAS Ctlg | rs758206023 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs758206023(C;C) |
Alt | rs758206023(C;C) |
Reference | Rs758206023(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.11850900G>C |
CLNSRC | |
CLNACC | RCV000167624.1, |