rs879255505
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs879255505(C;T) |
| Make rs879255505(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 11 |
| Position | 108140138 |
| Gene | ACAT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs879255505 |
| dbSNP (classic) | rs879255505 |
| ClinGen | rs879255505 |
| ebi | rs879255505 |
| HLI | rs879255505 |
| Exac | rs879255505 |
| Gnomad | rs879255505 |
| Varsome | rs879255505 |
| LitVar | rs879255505 |
| Map | rs879255505 |
| PheGenI | rs879255505 |
| Biobank | rs879255505 |
| 1000 genomes | rs879255505 |
| hgdp | rs879255505 |
| ensembl | rs879255505 |
| geneview | rs879255505 |
| scholar | rs879255505 |
| rs879255505 | |
| pharmgkb | rs879255505 |
| gwascentral | rs879255505 |
| openSNP | rs879255505 |
| 23andMe | rs879255505 |
| SNPshot | rs879255505 |
| SNPdbe | rs879255505 |
| MSV3d | rs879255505 |
| GWAS Ctlg | rs879255505 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs879255505(T;T) |
| Alt | rs879255505(T;T) |
| Reference | Rs879255505(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Deficiency of acetyl-CoA acetyltransferase |
| Variation | info |
| Gene | ACAT1 |
| CLNDBN | Deficiency of acetyl-CoA acetyltransferase |
| Reversed | 0 |
| HGVS | NC_000011.9:g.108010865C>T |
| CLNSRC | |
| CLNACC | RCV000239383.1, |
