rs863224869
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs863224869(C;C) |
| Make rs863224869(C;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 4 |
| Position | 158706647 |
| Gene | ETFDH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863224869 |
| dbSNP (classic) | rs863224869 |
| ClinGen | rs863224869 |
| ebi | rs863224869 |
| HLI | rs863224869 |
| Exac | rs863224869 |
| Gnomad | rs863224869 |
| Varsome | rs863224869 |
| LitVar | rs863224869 |
| Map | rs863224869 |
| PheGenI | rs863224869 |
| Biobank | rs863224869 |
| 1000 genomes | rs863224869 |
| hgdp | rs863224869 |
| ensembl | rs863224869 |
| geneview | rs863224869 |
| scholar | rs863224869 |
| rs863224869 | |
| pharmgkb | rs863224869 |
| gwascentral | rs863224869 |
| openSNP | rs863224869 |
| 23andMe | rs863224869 |
| SNPshot | rs863224869 |
| SNPdbe | rs863224869 |
| MSV3d | rs863224869 |
| GWAS Ctlg | rs863224869 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs863224869(C;C) |
| Alt | rs863224869(C;C) |
| Reference | Rs863224869(T;T) |
| Significance | Pathogenic |
| Disease | Glutaric aciduria |
| Variation | info |
| Gene | ETFDH |
| CLNDBN | Glutaric aciduria, type 2 |
| Reversed | 0 |
| HGVS | NC_000004.11:g.159627799T>C |
| CLNSRC | |
| CLNACC | RCV000198866.1, |
