rs267608327
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (TGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC;TGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC) | 0 | common in clinvar |
| Make rs267608327(-;-) |
| Make rs267608327(-;TGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | X |
| Position | 154030631 |
| Gene | MECP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267608327 |
| dbSNP (classic) | rs267608327 |
| ClinGen | rs267608327 |
| ebi | rs267608327 |
| HLI | rs267608327 |
| Exac | rs267608327 |
| Gnomad | rs267608327 |
| Varsome | rs267608327 |
| LitVar | rs267608327 |
| Map | rs267608327 |
| PheGenI | rs267608327 |
| Biobank | rs267608327 |
| 1000 genomes | rs267608327 |
| hgdp | rs267608327 |
| ensembl | rs267608327 |
| geneview | rs267608327 |
| scholar | rs267608327 |
| rs267608327 | |
| pharmgkb | rs267608327 |
| gwascentral | rs267608327 |
| openSNP | rs267608327 |
| 23andMe | rs267608327 |
| SNPshot | rs267608327 |
| SNPdbe | rs267608327 |
| MSV3d | rs267608327 |
| GWAS Ctlg | rs267608327 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs267608327(-;-) |
| Alt | rs267608327(-;-) |
| Reference | Rs267608327(TGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC;TGCCCCCACCTCCACCTGAGCCCGAGAGCTCCGAGGACCCC) |
| Significance | Pathogenic |
| Disease | not provided Rett syndrome Mental retardation Autism |
| Variation | info |
| Gene | MECP2 |
| CLNDBN | not provided Rett syndrome Mental retardation, X-linked, syndromic 13 Autism, susceptibility to, X-linked 3 |
| Reversed | 1 |
| HGVS | NC_000023.10:g.153296082_153296122del41 |
| CLNSRC | Children's Hospital of Eastern Ontario |
| CLNACC | RCV000132895.3, RCV000168701.5, RCV000169930.1, RCV000170099.1, |
