rs387906728
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs387906728(A;A) |
| Make rs387906728(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 119574743 |
| Gene | UBE2A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs387906728 |
| dbSNP (classic) | rs387906728 |
| ClinGen | rs387906728 |
| ebi | rs387906728 |
| HLI | rs387906728 |
| Exac | rs387906728 |
| Gnomad | rs387906728 |
| Varsome | rs387906728 |
| LitVar | rs387906728 |
| Map | rs387906728 |
| PheGenI | rs387906728 |
| Biobank | rs387906728 |
| 1000 genomes | rs387906728 |
| hgdp | rs387906728 |
| ensembl | rs387906728 |
| geneview | rs387906728 |
| scholar | rs387906728 |
| rs387906728 | |
| pharmgkb | rs387906728 |
| gwascentral | rs387906728 |
| openSNP | rs387906728 |
| 23andMe | rs387906728 |
| SNPshot | rs387906728 |
| SNPdbe | rs387906728 |
| MSV3d | rs387906728 |
| GWAS Ctlg | rs387906728 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs387906728(A;A) |
| Alt | rs387906728(A;A) |
| Reference | Rs387906728(G;G) |
| Significance | Pathogenic |
| Disease | Syndromic mental retardation |
| Variation | info |
| Gene | UBE2A |
| CLNDBN | Syndromic mental retardation, Nascimento type, X-linked |
| Reversed | 0 |
| HGVS | NC_000023.10:g.118708706G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000022886.4, |
