rs139851890
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs139851890(C;T) |
| Make rs139851890(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 19 |
| Position | 12893564 |
| Gene | GCDH |
| is a | snp |
| is | mentioned by |
| dbSNP | rs139851890 |
| dbSNP (classic) | rs139851890 |
| ClinGen | rs139851890 |
| ebi | rs139851890 |
| HLI | rs139851890 |
| Exac | rs139851890 |
| Gnomad | rs139851890 |
| Varsome | rs139851890 |
| LitVar | rs139851890 |
| Map | rs139851890 |
| PheGenI | rs139851890 |
| Biobank | rs139851890 |
| 1000 genomes | rs139851890 |
| hgdp | rs139851890 |
| ensembl | rs139851890 |
| geneview | rs139851890 |
| scholar | rs139851890 |
| rs139851890 | |
| pharmgkb | rs139851890 |
| gwascentral | rs139851890 |
| openSNP | rs139851890 |
| 23andMe | rs139851890 |
| SNPshot | rs139851890 |
| SNPdbe | rs139851890 |
| MSV3d | rs139851890 |
| GWAS Ctlg | rs139851890 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs139851890(T;T) |
| Alt | rs139851890(T;T) |
| Reference | Rs139851890(C;C) |
| Significance | Pathogenic |
| Disease | Glutaric aciduria not provided |
| Variation | info |
| Gene | GCDH |
| CLNDBN | Glutaric aciduria, type 1 not provided |
| Reversed | 0 |
| HGVS | NC_000019.9:g.13004378C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000169288.1, RCV000254928.1, |
