rs796051928
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 3 | Unaffected carrier of one bad argininosuccinate lyase allele |
| (C;C) | 8 | Argininosuccinate lyase deficiency |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 7 |
| Position | 66092814 |
| Gene | ASL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs796051928 |
| dbSNP (classic) | rs796051928 |
| ClinGen | rs796051928 |
| ebi | rs796051928 |
| HLI | rs796051928 |
| Exac | rs796051928 |
| Gnomad | rs796051928 |
| Varsome | rs796051928 |
| LitVar | rs796051928 |
| Map | rs796051928 |
| PheGenI | rs796051928 |
| Biobank | rs796051928 |
| 1000 genomes | rs796051928 |
| hgdp | rs796051928 |
| ensembl | rs796051928 |
| geneview | rs796051928 |
| scholar | rs796051928 |
| rs796051928 | |
| pharmgkb | rs796051928 |
| gwascentral | rs796051928 |
| openSNP | rs796051928 |
| 23andMe | rs796051928 |
| SNPshot | rs796051928 |
| SNPdbe | rs796051928 |
| MSV3d | rs796051928 |
| GWAS Ctlg | rs796051928 |
| Max Magnitude | 8 |
c.1297A>C, p.Ser433Arg or S433R
| ClinVar | |
|---|---|
| Risk | Rs796051928(C;C) |
| Alt | Rs796051928(C;C) |
| Reference | Rs796051928(A;A) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | ASL |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.65557801A>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000185772.1, |
