rs370595480
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs370595480(A;A) |
| Make rs370595480(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 9 |
| Position | 130480416 |
| Gene | ASS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs370595480 |
| dbSNP (classic) | rs370595480 |
| ClinGen | rs370595480 |
| ebi | rs370595480 |
| HLI | rs370595480 |
| Exac | rs370595480 |
| Gnomad | rs370595480 |
| Varsome | rs370595480 |
| LitVar | rs370595480 |
| Map | rs370595480 |
| PheGenI | rs370595480 |
| Biobank | rs370595480 |
| 1000 genomes | rs370595480 |
| hgdp | rs370595480 |
| ensembl | rs370595480 |
| geneview | rs370595480 |
| scholar | rs370595480 |
| rs370595480 | |
| pharmgkb | rs370595480 |
| gwascentral | rs370595480 |
| openSNP | rs370595480 |
| 23andMe | rs370595480 |
| SNPshot | rs370595480 |
| SNPdbe | rs370595480 |
| MSV3d | rs370595480 |
| GWAS Ctlg | rs370595480 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs370595480(A;A) |
| Alt | rs370595480(A;A) |
| Reference | Rs370595480(G;G) |
| Significance | Pathogenic |
| Disease | Citrullinemia type I not provided |
| Variation | info |
| Gene | ASS1 |
| CLNDBN | Citrullinemia type I not provided |
| Reversed | 0 |
| HGVS | NC_000009.11:g.133355803G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000174211.1, RCV000412912.1, |
