rs193922920
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs193922920(C;T) |
| Make rs193922920(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 29798640 |
| Gene | KIF22 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs193922920 |
| dbSNP (classic) | rs193922920 |
| ClinGen | rs193922920 |
| ebi | rs193922920 |
| HLI | rs193922920 |
| Exac | rs193922920 |
| Gnomad | rs193922920 |
| Varsome | rs193922920 |
| LitVar | rs193922920 |
| Map | rs193922920 |
| PheGenI | rs193922920 |
| Biobank | rs193922920 |
| 1000 genomes | rs193922920 |
| hgdp | rs193922920 |
| ensembl | rs193922920 |
| geneview | rs193922920 |
| scholar | rs193922920 |
| rs193922920 | |
| pharmgkb | rs193922920 |
| gwascentral | rs193922920 |
| openSNP | rs193922920 |
| 23andMe | rs193922920 |
| SNPshot | rs193922920 |
| SNPdbe | rs193922920 |
| MSV3d | rs193922920 |
| GWAS Ctlg | rs193922920 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs193922920(T;T) |
| Alt | rs193922920(T;T) |
| Reference | Rs193922920(C;C) |
| Significance | Pathogenic |
| Disease | Spondyloepimetaphyseal dysplasia with multiple dislocations |
| Variation | info |
| Gene | KIF22 |
| CLNDBN | Spondyloepimetaphyseal dysplasia with multiple dislocations |
| Reversed | 0 |
| HGVS | NC_000016.9:g.29809961C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000023268.2, |
