rs749765738
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs749765738(A;G) |
Make rs749765738(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 11792276 |
Gene | MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs749765738 |
dbSNP (classic) | rs749765738 |
ClinGen | rs749765738 |
ebi | rs749765738 |
HLI | rs749765738 |
Exac | rs749765738 |
Gnomad | rs749765738 |
Varsome | rs749765738 |
LitVar | rs749765738 |
Map | rs749765738 |
PheGenI | rs749765738 |
Biobank | rs749765738 |
1000 genomes | rs749765738 |
hgdp | rs749765738 |
ensembl | rs749765738 |
geneview | rs749765738 |
scholar | rs749765738 |
rs749765738 | |
pharmgkb | rs749765738 |
gwascentral | rs749765738 |
openSNP | rs749765738 |
23andMe | rs749765738 |
SNPshot | rs749765738 |
SNPdbe | rs749765738 |
MSV3d | rs749765738 |
GWAS Ctlg | rs749765738 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs749765738(C;C) rs749765738(G;G) |
Alt | rs749765738(C;C) rs749765738(G;G) |
Reference | Rs749765738(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.11852333A>C |
CLNSRC | |
CLNACC | RCV000167617.1, |