rs119450945
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs119450945(C;C) |
| Make rs119450945(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 40359279 |
| Gene | ADSL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs119450945 |
| dbSNP (classic) | rs119450945 |
| ClinGen | rs119450945 |
| ebi | rs119450945 |
| HLI | rs119450945 |
| Exac | rs119450945 |
| Gnomad | rs119450945 |
| Varsome | rs119450945 |
| LitVar | rs119450945 |
| Map | rs119450945 |
| PheGenI | rs119450945 |
| Biobank | rs119450945 |
| 1000 genomes | rs119450945 |
| hgdp | rs119450945 |
| ensembl | rs119450945 |
| geneview | rs119450945 |
| scholar | rs119450945 |
| rs119450945 | |
| pharmgkb | rs119450945 |
| gwascentral | rs119450945 |
| openSNP | rs119450945 |
| 23andMe | rs119450945 |
| SNPshot | rs119450945 |
| SNPdbe | rs119450945 |
| MSV3d | rs119450945 |
| GWAS Ctlg | rs119450945 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs119450945(C;C) |
| Alt | rs119450945(C;C) |
| Reference | Rs119450945(T;T) |
| Significance | Pathogenic |
| Disease | Adenylosuccinate lyase deficiency |
| Variation | info |
| Gene | ADSL |
| CLNDBN | Adenylosuccinate lyase deficiency |
| Reversed | 0 |
| HGVS | NC_000022.10:g.40755283T>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000002572.4, |
