rs369879957
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Unaffected carrier of one bad argininosuccinate lyase allele |
| (T;T) | 8 | Argininosuccinate lyase deficiency |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 7 |
| Position | 66087380 |
| Gene | ASL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs369879957 |
| dbSNP (classic) | rs369879957 |
| ClinGen | rs369879957 |
| ebi | rs369879957 |
| HLI | rs369879957 |
| Exac | rs369879957 |
| Gnomad | rs369879957 |
| Varsome | rs369879957 |
| LitVar | rs369879957 |
| Map | rs369879957 |
| PheGenI | rs369879957 |
| Biobank | rs369879957 |
| 1000 genomes | rs369879957 |
| hgdp | rs369879957 |
| ensembl | rs369879957 |
| geneview | rs369879957 |
| scholar | rs369879957 |
| rs369879957 | |
| pharmgkb | rs369879957 |
| gwascentral | rs369879957 |
| openSNP | rs369879957 |
| 23andMe | rs369879957 |
| SNPshot | rs369879957 |
| SNPdbe | rs369879957 |
| MSV3d | rs369879957 |
| GWAS Ctlg | rs369879957 |
| Max Magnitude | 8 |
c.649C>T, p.Arg217Ter or R217X
| ClinVar | |
|---|---|
| Risk | Rs369879957(T;T) |
| Alt | Rs369879957(T;T) |
| Reference | Rs369879957(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | ASL |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.65552367C>T |
| CLNSRC | |
| CLNACC | RCV000185765.3, |
