rs199524907
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs199524907(A;G) |
| Make rs199524907(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 11 |
| Position | 108138935 |
| Gene | ACAT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199524907 |
| dbSNP (classic) | rs199524907 |
| ClinGen | rs199524907 |
| ebi | rs199524907 |
| HLI | rs199524907 |
| Exac | rs199524907 |
| Gnomad | rs199524907 |
| Varsome | rs199524907 |
| LitVar | rs199524907 |
| Map | rs199524907 |
| PheGenI | rs199524907 |
| Biobank | rs199524907 |
| 1000 genomes | rs199524907 |
| hgdp | rs199524907 |
| ensembl | rs199524907 |
| geneview | rs199524907 |
| scholar | rs199524907 |
| rs199524907 | |
| pharmgkb | rs199524907 |
| gwascentral | rs199524907 |
| openSNP | rs199524907 |
| 23andMe | rs199524907 |
| SNPshot | rs199524907 |
| SNPdbe | rs199524907 |
| MSV3d | rs199524907 |
| GWAS Ctlg | rs199524907 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199524907(G;G) |
| Alt | rs199524907(G;G) |
| Reference | Rs199524907(A;A) |
| Significance | Pathogenic |
| Disease | Deficiency of acetyl-CoA acetyltransferase |
| Variation | info |
| Gene | ACAT1 |
| CLNDBN | Deficiency of acetyl-CoA acetyltransferase |
| Reversed | 0 |
| HGVS | NC_000011.9:g.108009662A>G |
| CLNSRC | |
| CLNACC | RCV000179237.1, |
