rs763191789
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5.7 | Citrullinemia type II/citrin deficiency; neonatal and/or adult-onset |
| (G;G) | 0 | common/normal |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 7 |
| Position | 96184990 |
| Gene | SLC25A13 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs763191789 |
| dbSNP (classic) | rs763191789 |
| ClinGen | rs763191789 |
| ebi | rs763191789 |
| HLI | rs763191789 |
| Exac | rs763191789 |
| Gnomad | rs763191789 |
| Varsome | rs763191789 |
| LitVar | rs763191789 |
| Map | rs763191789 |
| PheGenI | rs763191789 |
| Biobank | rs763191789 |
| 1000 genomes | rs763191789 |
| hgdp | rs763191789 |
| ensembl | rs763191789 |
| geneview | rs763191789 |
| scholar | rs763191789 |
| rs763191789 | |
| pharmgkb | rs763191789 |
| gwascentral | rs763191789 |
| openSNP | rs763191789 |
| 23andMe | rs763191789 |
| SNPshot | rs763191789 |
| SNPdbe | rs763191789 |
| MSV3d | rs763191789 |
| GWAS Ctlg | rs763191789 |
| Max Magnitude | 5.7 |
| ClinVar | |
|---|---|
| Risk | Rs763191789(A;A) rs763191789(C;C) |
| Alt | Rs763191789(A;A) rs763191789(C;C) |
| Reference | Rs763191789(G;G) |
| Significance | Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | SLC25A13 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000007.13:g.95814302G>A |
| CLNSRC | |
| CLNACC | RCV000412829.1, |
