rs749788626
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 | 66092848 |
| Gene | ASL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs749788626 |
| dbSNP (classic) | rs749788626 |
| ClinGen | rs749788626 |
| ebi | rs749788626 |
| HLI | rs749788626 |
| Exac | rs749788626 |
| Gnomad | rs749788626 |
| Varsome | rs749788626 |
| LitVar | rs749788626 |
| Map | rs749788626 |
| PheGenI | rs749788626 |
| Biobank | rs749788626 |
| 1000 genomes | rs749788626 |
| hgdp | rs749788626 |
| ensembl | rs749788626 |
| geneview | rs749788626 |
| scholar | rs749788626 |
| rs749788626 | |
| pharmgkb | rs749788626 |
| gwascentral | rs749788626 |
| openSNP | rs749788626 |
| 23andMe | rs749788626 |
| SNPshot | rs749788626 |
| SNPdbe | rs749788626 |
| MSV3d | rs749788626 |
| GWAS Ctlg | rs749788626 |
| Max Magnitude | 8 |
c.1331C>T, p.Ala444Val or A444V
pathogenic for argininosuccinate lyase deficiency, according to [PMID 12384776]
