rs150487794
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs150487794(A;A) |
| Make rs150487794(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 89114436 |
| Gene | ACSF3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs150487794 |
| dbSNP (classic) | rs150487794 |
| ClinGen | rs150487794 |
| ebi | rs150487794 |
| HLI | rs150487794 |
| Exac | rs150487794 |
| Gnomad | rs150487794 |
| Varsome | rs150487794 |
| LitVar | rs150487794 |
| Map | rs150487794 |
| PheGenI | rs150487794 |
| Biobank | rs150487794 |
| 1000 genomes | rs150487794 |
| hgdp | rs150487794 |
| ensembl | rs150487794 |
| geneview | rs150487794 |
| scholar | rs150487794 |
| rs150487794 | |
| pharmgkb | rs150487794 |
| gwascentral | rs150487794 |
| openSNP | rs150487794 |
| 23andMe | rs150487794 |
| SNPshot | rs150487794 |
| SNPdbe | rs150487794 |
| MSV3d | rs150487794 |
| GWAS Ctlg | rs150487794 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs150487794(A;A) |
| Alt | rs150487794(A;A) |
| Reference | Rs150487794(G;G) |
| Significance | Pathogenic |
| Disease | Combined malonic and methylmalonic aciduria not provided not specified |
| Variation | info |
| Gene | ACSF3 |
| CLNDBN | Combined malonic and methylmalonic aciduria not provided not specified |
| Reversed | 0 |
| HGVS | NC_000016.9:g.89180844G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000024132.3, RCV000185748.3, RCV000291855.1, |
