rs1131691845
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| Make rs1131691845(C;T) |
| Make rs1131691845(T;T) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 13 |
| Position | 114324245 |
| Gene | CHAMP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1131691845 |
| dbSNP (classic) | rs1131691845 |
| ClinGen | rs1131691845 |
| ebi | rs1131691845 |
| HLI | rs1131691845 |
| Exac | rs1131691845 |
| Gnomad | rs1131691845 |
| Varsome | rs1131691845 |
| LitVar | rs1131691845 |
| Map | rs1131691845 |
| PheGenI | rs1131691845 |
| Biobank | rs1131691845 |
| 1000 genomes | rs1131691845 |
| hgdp | rs1131691845 |
| ensembl | rs1131691845 |
| geneview | rs1131691845 |
| scholar | rs1131691845 |
| rs1131691845 | |
| pharmgkb | rs1131691845 |
| gwascentral | rs1131691845 |
| openSNP | rs1131691845 |
| 23andMe | rs1131691845 |
| SNPshot | rs1131691845 |
| SNPdbe | rs1131691845 |
| MSV3d | rs1131691845 |
| GWAS Ctlg | rs1131691845 |
| Max Magnitude | 0 |
aka c.403C>T (p.Gln135Ter)
Considered pathogenic in ClinVar; condition not specified, but based on similar mutations also in the CHAMP1 gene, likely to be a form of autosomal dominant mental retardation.
