rs61748396
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs61748396(C;G) |
| Make rs61748396(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 154031405 |
| Gene | MECP2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61748396 |
| dbSNP (classic) | rs61748396 |
| ClinGen | rs61748396 |
| ebi | rs61748396 |
| HLI | rs61748396 |
| Exac | rs61748396 |
| Gnomad | rs61748396 |
| Varsome | rs61748396 |
| LitVar | rs61748396 |
| Map | rs61748396 |
| PheGenI | rs61748396 |
| Biobank | rs61748396 |
| 1000 genomes | rs61748396 |
| hgdp | rs61748396 |
| ensembl | rs61748396 |
| geneview | rs61748396 |
| scholar | rs61748396 |
| rs61748396 | |
| pharmgkb | rs61748396 |
| gwascentral | rs61748396 |
| openSNP | rs61748396 |
| 23andMe | rs61748396 |
| SNPshot | rs61748396 |
| SNPdbe | rs61748396 |
| MSV3d | rs61748396 |
| GWAS Ctlg | rs61748396 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61748396(A;A) rs61748396(G;G) |
| Alt | rs61748396(A;A) rs61748396(G;G) |
| Reference | Rs61748396(C;C) |
| Significance | Pathogenic |
| Disease | Atypical Rett syndrome Angelman syndrome Rett syndrome |
| Variation | info |
| Gene | MECP2 |
| CLNDBN | Atypical Rett syndrome Angelman syndrome Rett syndrome |
| Reversed | 1 |
| HGVS | NC_000023.10:g.153296856G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000012606.23, RCV000133106.2, RCV000170108.1, |
[PMID 17387578] Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms.
