rs148639841
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs148639841(A;G) |
| Make rs148639841(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 108138934 |
| Gene | ACAT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148639841 |
| dbSNP (classic) | rs148639841 |
| ClinGen | rs148639841 |
| ebi | rs148639841 |
| HLI | rs148639841 |
| Exac | rs148639841 |
| Gnomad | rs148639841 |
| Varsome | rs148639841 |
| LitVar | rs148639841 |
| Map | rs148639841 |
| PheGenI | rs148639841 |
| Biobank | rs148639841 |
| 1000 genomes | rs148639841 |
| hgdp | rs148639841 |
| ensembl | rs148639841 |
| geneview | rs148639841 |
| scholar | rs148639841 |
| rs148639841 | |
| pharmgkb | rs148639841 |
| gwascentral | rs148639841 |
| openSNP | rs148639841 |
| 23andMe | rs148639841 |
| SNPshot | rs148639841 |
| SNPdbe | rs148639841 |
| MSV3d | rs148639841 |
| GWAS Ctlg | rs148639841 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs148639841(G;G) |
| Alt | rs148639841(G;G) |
| Reference | Rs148639841(A;A) |
| Significance | Pathogenic |
| Disease | not provided Deficiency of acetyl-CoA acetyltransferase |
| Variation | info |
| Gene | ACAT1 |
| CLNDBN | not provided Deficiency of acetyl-CoA acetyltransferase |
| Reversed | 0 |
| HGVS | NC_000011.9:g.108009661A>G |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000077931.4, RCV000179235.1, |
