rs752100894
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common/normal |
| (A;G) | 3 | Unaffected carrier of an argininosuccinate lyase mutation |
| (G;G) | 8 | Argininosuccinate lyase deficiency |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 7 |
| Position | 66082420 |
| Gene | ASL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs752100894 |
| dbSNP (classic) | rs752100894 |
| ClinGen | rs752100894 |
| ebi | rs752100894 |
| HLI | rs752100894 |
| Exac | rs752100894 |
| Gnomad | rs752100894 |
| Varsome | rs752100894 |
| LitVar | rs752100894 |
| Map | rs752100894 |
| PheGenI | rs752100894 |
| Biobank | rs752100894 |
| 1000 genomes | rs752100894 |
| hgdp | rs752100894 |
| ensembl | rs752100894 |
| geneview | rs752100894 |
| scholar | rs752100894 |
| rs752100894 | |
| pharmgkb | rs752100894 |
| gwascentral | rs752100894 |
| openSNP | rs752100894 |
| 23andMe | rs752100894 |
| SNPshot | rs752100894 |
| SNPdbe | rs752100894 |
| MSV3d | rs752100894 |
| GWAS Ctlg | rs752100894 |
| Max Magnitude | 8 |
c.260A>G, p.Asp87Gly or D87G
pathogenic for argininosuccinate lyase deficiency, according to [PMID 12384776]
