rs786204537
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (T;T) | 0 | Ancestry miscall in all likelihood |
| Make rs786204537(C;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 130494926 |
| Gene | ASS1, LOC105376294 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs786204537 |
| dbSNP (classic) | rs786204537 |
| ClinGen | rs786204537 |
| ebi | rs786204537 |
| HLI | rs786204537 |
| Exac | rs786204537 |
| Gnomad | rs786204537 |
| Varsome | rs786204537 |
| LitVar | rs786204537 |
| Map | rs786204537 |
| PheGenI | rs786204537 |
| Biobank | rs786204537 |
| 1000 genomes | rs786204537 |
| hgdp | rs786204537 |
| ensembl | rs786204537 |
| geneview | rs786204537 |
| scholar | rs786204537 |
| rs786204537 | |
| pharmgkb | rs786204537 |
| gwascentral | rs786204537 |
| openSNP | rs786204537 |
| 23andMe | rs786204537 |
| SNPshot | rs786204537 |
| SNPdbe | rs786204537 |
| MSV3d | rs786204537 |
| GWAS Ctlg | rs786204537 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | Rs786204537(T;T) |
| Alt | Rs786204537(T;T) |
| Reference | Rs786204537(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Citrullinemia type I |
| Variation | info |
| Gene | ASS1 |
| CLNDBN | Citrullinemia type I |
| Reversed | 0 |
| HGVS | NC_000009.11:g.133370313C>T |
| CLNSRC | |
| CLNACC | RCV000169239.1, |
