rs114378922
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs114378922(C;T) |
| Make rs114378922(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 126446877 |
| Gene | KIRREL3, ST3GAL4 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs114378922 |
| dbSNP (classic) | rs114378922 |
| ClinGen | rs114378922 |
| ebi | rs114378922 |
| HLI | rs114378922 |
| Exac | rs114378922 |
| Gnomad | rs114378922 |
| Varsome | rs114378922 |
| LitVar | rs114378922 |
| Map | rs114378922 |
| PheGenI | rs114378922 |
| Biobank | rs114378922 |
| 1000 genomes | rs114378922 |
| hgdp | rs114378922 |
| ensembl | rs114378922 |
| geneview | rs114378922 |
| scholar | rs114378922 |
| rs114378922 | |
| pharmgkb | rs114378922 |
| gwascentral | rs114378922 |
| openSNP | rs114378922 |
| 23andMe | rs114378922 |
| SNPshot | rs114378922 |
| SNPdbe | rs114378922 |
| MSV3d | rs114378922 |
| GWAS Ctlg | rs114378922 |
| GMAF | 0.0009183 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs114378922(T;T) |
| Alt | rs114378922(T;T) |
| Reference | Rs114378922(C;C) |
| Significance | Pathogenic |
| Disease | Mental retardation |
| Variation | info |
| Gene | KIRREL3 |
| CLNDBN | Mental retardation, autosomal dominant 4 |
| Reversed | 0 |
| HGVS | NC_000011.9:g.126316772C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003021.3, |
