rs751930594
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs751930594(A;G) |
| Make rs751930594(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 9 |
| Position | 130466723 |
| Gene | ASS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs751930594 |
| dbSNP (classic) | rs751930594 |
| ClinGen | rs751930594 |
| ebi | rs751930594 |
| HLI | rs751930594 |
| Exac | rs751930594 |
| Gnomad | rs751930594 |
| Varsome | rs751930594 |
| LitVar | rs751930594 |
| Map | rs751930594 |
| PheGenI | rs751930594 |
| Biobank | rs751930594 |
| 1000 genomes | rs751930594 |
| hgdp | rs751930594 |
| ensembl | rs751930594 |
| geneview | rs751930594 |
| scholar | rs751930594 |
| rs751930594 | |
| pharmgkb | rs751930594 |
| gwascentral | rs751930594 |
| openSNP | rs751930594 |
| 23andMe | rs751930594 |
| SNPshot | rs751930594 |
| SNPdbe | rs751930594 |
| MSV3d | rs751930594 |
| GWAS Ctlg | rs751930594 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs751930594(G;G) rs751930594(T;T) |
| Alt | rs751930594(G;G) rs751930594(T;T) |
| Reference | Rs751930594(A;A) |
| Significance | Pathogenic |
| Disease | Citrullinemia type I |
| Variation | info |
| Gene | ASS1 |
| CLNDBN | Citrullinemia type I |
| Reversed | 0 |
| HGVS | NC_000009.11:g.133342110A>G |
| CLNSRC | |
| CLNACC | RCV000179704.1, |
