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, | 


