rs769960006
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 3 | Unaffected carrier of an argininosuccinate lyase mutation |
| (T;T) | 8 | Argininosuccinate lyase deficiency |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 7 |
| Position | 66086614 |
| Gene | ASL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs769960006 |
| dbSNP (classic) | rs769960006 |
| ClinGen | rs769960006 |
| ebi | rs769960006 |
| HLI | rs769960006 |
| Exac | rs769960006 |
| Gnomad | rs769960006 |
| Varsome | rs769960006 |
| LitVar | rs769960006 |
| Map | rs769960006 |
| PheGenI | rs769960006 |
| Biobank | rs769960006 |
| 1000 genomes | rs769960006 |
| hgdp | rs769960006 |
| ensembl | rs769960006 |
| geneview | rs769960006 |
| scholar | rs769960006 |
| rs769960006 | |
| pharmgkb | rs769960006 |
| gwascentral | rs769960006 |
| openSNP | rs769960006 |
| 23andMe | rs769960006 |
| SNPshot | rs769960006 |
| SNPdbe | rs769960006 |
| MSV3d | rs769960006 |
| GWAS Ctlg | rs769960006 |
| Max Magnitude | 8 |
c.476C>T, p.Thr159Ile or T159I
pathogenic for argininosuccinate lyase deficiency, according to [PMID 12384776]
