rs140986055
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs140986055(C;T) |
| Make rs140986055(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 89102665 |
| Gene | ACSF3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140986055 |
| dbSNP (classic) | rs140986055 |
| ClinGen | rs140986055 |
| ebi | rs140986055 |
| HLI | rs140986055 |
| Exac | rs140986055 |
| Gnomad | rs140986055 |
| Varsome | rs140986055 |
| LitVar | rs140986055 |
| Map | rs140986055 |
| PheGenI | rs140986055 |
| Biobank | rs140986055 |
| 1000 genomes | rs140986055 |
| hgdp | rs140986055 |
| ensembl | rs140986055 |
| geneview | rs140986055 |
| scholar | rs140986055 |
| rs140986055 | |
| pharmgkb | rs140986055 |
| gwascentral | rs140986055 |
| openSNP | rs140986055 |
| 23andMe | rs140986055 |
| SNPshot | rs140986055 |
| SNPdbe | rs140986055 |
| MSV3d | rs140986055 |
| GWAS Ctlg | rs140986055 |
| GMAF | 0.0004591 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs140986055(T;T) |
| Alt | rs140986055(T;T) |
| Reference | Rs140986055(C;C) |
| Significance | Pathogenic |
| Disease | Combined malonic and methylmalonic aciduria |
| Variation | info |
| Gene | ACSF3 |
| CLNDBN | Combined malonic and methylmalonic aciduria |
| Reversed | 0 |
| HGVS | NC_000016.9:g.89169073C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000024136.3, |
