rs199422234
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs199422234(C;T) |
| Make rs199422234(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 53199029 |
| Gene | KDM5C, MIR6894 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199422234 |
| dbSNP (classic) | rs199422234 |
| ClinGen | rs199422234 |
| ebi | rs199422234 |
| HLI | rs199422234 |
| Exac | rs199422234 |
| Gnomad | rs199422234 |
| Varsome | rs199422234 |
| LitVar | rs199422234 |
| Map | rs199422234 |
| PheGenI | rs199422234 |
| Biobank | rs199422234 |
| 1000 genomes | rs199422234 |
| hgdp | rs199422234 |
| ensembl | rs199422234 |
| geneview | rs199422234 |
| scholar | rs199422234 |
| rs199422234 | |
| pharmgkb | rs199422234 |
| gwascentral | rs199422234 |
| openSNP | rs199422234 |
| 23andMe | rs199422234 |
| SNPshot | rs199422234 |
| SNPdbe | rs199422234 |
| MSV3d | rs199422234 |
| GWAS Ctlg | rs199422234 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199422234(T;T) |
| Alt | rs199422234(T;T) |
| Reference | Rs199422234(C;C) |
| Significance | Pathogenic |
| Disease | Mental retardation |
| Variation | info |
| Gene | MIR6894 KDM5C |
| CLNDBN | Mental retardation, syndromic, Claes-Jensen type, X-linked |
| Reversed | 1 |
| HGVS | NC_000023.10:g.53228211G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000010426.3, |
