rs759031330
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs759031330(A;A) |
Make rs759031330(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 1 |
Position | 11794862 |
Gene | MTHFR |
is a | snp |
is | mentioned by |
dbSNP | rs759031330 |
dbSNP (classic) | rs759031330 |
ClinGen | rs759031330 |
ebi | rs759031330 |
HLI | rs759031330 |
Exac | rs759031330 |
Gnomad | rs759031330 |
Varsome | rs759031330 |
LitVar | rs759031330 |
Map | rs759031330 |
PheGenI | rs759031330 |
Biobank | rs759031330 |
1000 genomes | rs759031330 |
hgdp | rs759031330 |
ensembl | rs759031330 |
geneview | rs759031330 |
scholar | rs759031330 |
rs759031330 | |
pharmgkb | rs759031330 |
gwascentral | rs759031330 |
openSNP | rs759031330 |
23andMe | rs759031330 |
SNPshot | rs759031330 |
SNPdbe | rs759031330 |
MSV3d | rs759031330 |
GWAS Ctlg | rs759031330 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs759031330(A;A) |
Alt | rs759031330(A;A) |
Reference | Rs759031330(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.11854919G>A |
CLNSRC | |
CLNACC | RCV000416797.1, |