rs199938613
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 | 66083164 |
| Gene | ASL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199938613 |
| dbSNP (classic) | rs199938613 |
| ClinGen | rs199938613 |
| ebi | rs199938613 |
| HLI | rs199938613 |
| Exac | rs199938613 |
| Gnomad | rs199938613 |
| Varsome | rs199938613 |
| LitVar | rs199938613 |
| Map | rs199938613 |
| PheGenI | rs199938613 |
| Biobank | rs199938613 |
| 1000 genomes | rs199938613 |
| hgdp | rs199938613 |
| ensembl | rs199938613 |
| geneview | rs199938613 |
| scholar | rs199938613 |
| rs199938613 | |
| pharmgkb | rs199938613 |
| gwascentral | rs199938613 |
| openSNP | rs199938613 |
| 23andMe | rs199938613 |
| SNPshot | rs199938613 |
| SNPdbe | rs199938613 |
| MSV3d | rs199938613 |
| GWAS Ctlg | rs199938613 |
| Max Magnitude | 8 |
c.436C>T, p.Arg146Trp or R146W
| ClinVar | |
|---|---|
| Risk | Rs199938613(T;T) |
| Alt | Rs199938613(T;T) |
| Reference | Rs199938613(C;C) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | ASL |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.65548151C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000185777.1, |
