rs575001023
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs575001023(A;A) |
| Make rs575001023(A;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 9 |
| Position | 130458483 |
| Gene | ASS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs575001023 |
| dbSNP (classic) | rs575001023 |
| ClinGen | rs575001023 |
| ebi | rs575001023 |
| HLI | rs575001023 |
| Exac | rs575001023 |
| Gnomad | rs575001023 |
| Varsome | rs575001023 |
| LitVar | rs575001023 |
| Map | rs575001023 |
| PheGenI | rs575001023 |
| Biobank | rs575001023 |
| 1000 genomes | rs575001023 |
| hgdp | rs575001023 |
| ensembl | rs575001023 |
| geneview | rs575001023 |
| scholar | rs575001023 |
| rs575001023 | |
| pharmgkb | rs575001023 |
| gwascentral | rs575001023 |
| openSNP | rs575001023 |
| 23andMe | rs575001023 |
| SNPshot | rs575001023 |
| SNPdbe | rs575001023 |
| MSV3d | rs575001023 |
| GWAS Ctlg | rs575001023 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs575001023(A;A) |
| Alt | rs575001023(A;A) |
| Reference | Rs575001023(G;G) |
| Significance | Pathogenic |
| Disease | Citrullinemia type I |
| Variation | info |
| Gene | ASS1 |
| CLNDBN | Citrullinemia type I |
| Reversed | 0 |
| HGVS | NC_000009.11:g.133333870G>A |
| CLNSRC | |
| CLNACC | RCV000256238.1, |
