rs875989948
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs875989948(C;C) |
| Make rs875989948(C;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 7 |
| Position | 66092022 |
| Gene | ASL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs875989948 |
| dbSNP (classic) | rs875989948 |
| ClinGen | rs875989948 |
| ebi | rs875989948 |
| HLI | rs875989948 |
| Exac | rs875989948 |
| Gnomad | rs875989948 |
| Varsome | rs875989948 |
| LitVar | rs875989948 |
| Map | rs875989948 |
| PheGenI | rs875989948 |
| Biobank | rs875989948 |
| 1000 genomes | rs875989948 |
| hgdp | rs875989948 |
| ensembl | rs875989948 |
| geneview | rs875989948 |
| scholar | rs875989948 |
| rs875989948 | |
| pharmgkb | rs875989948 |
| gwascentral | rs875989948 |
| openSNP | rs875989948 |
| 23andMe | rs875989948 |
| SNPshot | rs875989948 |
| SNPdbe | rs875989948 |
| MSV3d | rs875989948 |
| GWAS Ctlg | rs875989948 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs875989948(C;C) |
| Alt | rs875989948(C;C) |
| Reference | Rs875989948(T;T) |
| Significance | Pathogenic |
| Disease | Argininosuccinate lyase deficiency |
| Variation | info |
| Gene | ASL |
| CLNDBN | Argininosuccinate lyase deficiency |
| Reversed | 0 |
| HGVS | NC_000007.13:g.65557009T>C |
| CLNSRC | |
| CLNACC | RCV000211672.1, |
