rs202064195
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs202064195(C;T) |
| Make rs202064195(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 22 |
| Position | 40361578 |
| Gene | ADSL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs202064195 |
| dbSNP (classic) | rs202064195 |
| ClinGen | rs202064195 |
| ebi | rs202064195 |
| HLI | rs202064195 |
| Exac | rs202064195 |
| Gnomad | rs202064195 |
| Varsome | rs202064195 |
| LitVar | rs202064195 |
| Map | rs202064195 |
| PheGenI | rs202064195 |
| Biobank | rs202064195 |
| 1000 genomes | rs202064195 |
| hgdp | rs202064195 |
| ensembl | rs202064195 |
| geneview | rs202064195 |
| scholar | rs202064195 |
| rs202064195 | |
| pharmgkb | rs202064195 |
| gwascentral | rs202064195 |
| openSNP | rs202064195 |
| 23andMe | rs202064195 |
| SNPshot | rs202064195 |
| SNPdbe | rs202064195 |
| MSV3d | rs202064195 |
| GWAS Ctlg | rs202064195 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs202064195(T;T) |
| Alt | rs202064195(T;T) |
| Reference | Rs202064195(C;C) |
| Significance | Pathogenic |
| Disease | not provided Adenylosuccinate lyase deficiency |
| Variation | info |
| Gene | ADSL |
| CLNDBN | not provided Adenylosuccinate lyase deficiency |
| Reversed | 0 |
| HGVS | NC_000022.10:g.40757582C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000186684.2, RCV000278336.1, |
