rs122468182
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs122468182(G;G) |
| Make rs122468182(G;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 119843293 |
| Gene | UPF3B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs122468182 |
| dbSNP (classic) | rs122468182 |
| ClinGen | rs122468182 |
| ebi | rs122468182 |
| HLI | rs122468182 |
| Exac | rs122468182 |
| Gnomad | rs122468182 |
| Varsome | rs122468182 |
| LitVar | rs122468182 |
| Map | rs122468182 |
| PheGenI | rs122468182 |
| Biobank | rs122468182 |
| 1000 genomes | rs122468182 |
| hgdp | rs122468182 |
| ensembl | rs122468182 |
| geneview | rs122468182 |
| scholar | rs122468182 |
| rs122468182 | |
| pharmgkb | rs122468182 |
| gwascentral | rs122468182 |
| openSNP | rs122468182 |
| 23andMe | rs122468182 |
| SNPshot | rs122468182 |
| SNPdbe | rs122468182 |
| MSV3d | rs122468182 |
| GWAS Ctlg | rs122468182 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs122468182(G;G) |
| Alt | rs122468182(G;G) |
| Reference | Rs122468182(T;T) |
| Significance | Pathogenic |
| Disease | Mental retardation |
| Variation | info |
| Gene | UPF3B |
| CLNDBN | Mental retardation, syndromic 14, X-linked |
| Reversed | 1 |
| HGVS | NC_000023.10:g.118977256A>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000012154.17, |
