rs137852769
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs137852769(C;C) |
| Make rs137852769(C;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 2 |
| Position | 26195184 |
| Gene | GAREM2, HADHA, LOC107985860 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs137852769 |
| dbSNP (classic) | rs137852769 |
| ClinGen | rs137852769 |
| ebi | rs137852769 |
| HLI | rs137852769 |
| Exac | rs137852769 |
| Gnomad | rs137852769 |
| Varsome | rs137852769 |
| LitVar | rs137852769 |
| Map | rs137852769 |
| PheGenI | rs137852769 |
| Biobank | rs137852769 |
| 1000 genomes | rs137852769 |
| hgdp | rs137852769 |
| ensembl | rs137852769 |
| geneview | rs137852769 |
| scholar | rs137852769 |
| rs137852769 | |
| pharmgkb | rs137852769 |
| gwascentral | rs137852769 |
| openSNP | rs137852769 |
| 23andMe | rs137852769 |
| SNPshot | rs137852769 |
| SNPdbe | rs137852769 |
| MSV3d | rs137852769 |
| GWAS Ctlg | rs137852769 |
| GMAF | 0.0 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs137852769(C;C) |
| Alt | rs137852769(C;C) |
| Reference | Rs137852769(G;G) |
| Significance | Pathogenic |
| Disease | Mitochondrial trifunctional protein deficiency Lchad deficiency with maternal acute fatty liver of pregnancy Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency not provided |
| Variation | info |
| Gene | HADHA |
| CLNDBN | Mitochondrial trifunctional protein deficiency Lchad deficiency with maternal acute fatty liver of pregnancy Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency not provided |
| Reversed | 1 |
| HGVS | NC_000002.11:g.26418053C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009266.5, RCV000009267.4, RCV000174836.2, RCV000185933.2, |
