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, |
