rs267608466
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (CAGTCCCCA;CAGTCCCCA) | 0 | common in clinvar |
| Make rs267608466(-;-) |
| Make rs267608466(-;CAGTCCCCA) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | X |
| Position | 154031445 |
| Gene | MECP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267608466 |
| dbSNP (classic) | rs267608466 |
| ClinGen | rs267608466 |
| ebi | rs267608466 |
| HLI | rs267608466 |
| Exac | rs267608466 |
| Gnomad | rs267608466 |
| Varsome | rs267608466 |
| LitVar | rs267608466 |
| Map | rs267608466 |
| PheGenI | rs267608466 |
| Biobank | rs267608466 |
| 1000 genomes | rs267608466 |
| hgdp | rs267608466 |
| ensembl | rs267608466 |
| geneview | rs267608466 |
| scholar | rs267608466 |
| rs267608466 | |
| pharmgkb | rs267608466 |
| gwascentral | rs267608466 |
| openSNP | rs267608466 |
| 23andMe | rs267608466 |
| SNPshot | rs267608466 |
| SNPdbe | rs267608466 |
| MSV3d | rs267608466 |
| GWAS Ctlg | rs267608466 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs267608466(-;-) |
| Alt | rs267608466(-;-) |
| Reference | Rs267608466(CAGTCCCCA;CAGTCCCCA) |
| Significance | Pathogenic |
| Disease | not provided Severe neonatal-onset encephalopathy with microcephaly |
| Variation | info |
| Gene | MECP2 |
| CLNDBN | not provided Severe neonatal-onset encephalopathy with microcephaly |
| Reversed | 1 |
| HGVS | NC_000023.10:g.153296896_153296904delTGGGGACTG |
| CLNSRC | |
| CLNACC | RCV000144116.1, RCV000170201.1, |
