rs61751370
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs61751370(A;A) |
| Make rs61751370(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 154030930 |
| Gene | MECP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61751370 |
| dbSNP (classic) | rs61751370 |
| ClinGen | rs61751370 |
| ebi | rs61751370 |
| HLI | rs61751370 |
| Exac | rs61751370 |
| Gnomad | rs61751370 |
| Varsome | rs61751370 |
| LitVar | rs61751370 |
| Map | rs61751370 |
| PheGenI | rs61751370 |
| Biobank | rs61751370 |
| 1000 genomes | rs61751370 |
| hgdp | rs61751370 |
| ensembl | rs61751370 |
| geneview | rs61751370 |
| scholar | rs61751370 |
| rs61751370 | |
| pharmgkb | rs61751370 |
| gwascentral | rs61751370 |
| openSNP | rs61751370 |
| 23andMe | rs61751370 |
| SNPshot | rs61751370 |
| SNPdbe | rs61751370 |
| MSV3d | rs61751370 |
| GWAS Ctlg | rs61751370 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61751370(A;A) |
| Alt | rs61751370(A;A) |
| Reference | Rs61751370(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Rett syndrome Autism |
| Variation | info |
| Gene | MECP2 |
| CLNDBN | Rett syndrome Autism, susceptibility to, X-linked 3 |
| Reversed | 1 |
| HGVS | NC_000023.10:g.153296381C>T |
| CLNSRC | ClinVar LabCorp |
| CLNACC | RCV000030166.3, RCV000133270.2, |
[PMID 11462237] DHPLC analysis of the MECP2 gene in Italian Rett patients.
