rs29001685
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs29001685(C;C) |
| Make rs29001685(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 150796863 |
| Gene | CTSK |
| is a | snp |
| is | mentioned by |
| dbSNP | rs29001685 |
| dbSNP (classic) | rs29001685 |
| ClinGen | rs29001685 |
| ebi | rs29001685 |
| HLI | rs29001685 |
| Exac | rs29001685 |
| Gnomad | rs29001685 |
| Varsome | rs29001685 |
| LitVar | rs29001685 |
| Map | rs29001685 |
| PheGenI | rs29001685 |
| Biobank | rs29001685 |
| 1000 genomes | rs29001685 |
| hgdp | rs29001685 |
| ensembl | rs29001685 |
| geneview | rs29001685 |
| scholar | rs29001685 |
| rs29001685 | |
| pharmgkb | rs29001685 |
| gwascentral | rs29001685 |
| openSNP | rs29001685 |
| 23andMe | rs29001685 |
| SNPshot | rs29001685 |
| SNPdbe | rs29001685 |
| MSV3d | rs29001685 |
| GWAS Ctlg | rs29001685 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs29001685(C;C) |
| Alt | rs29001685(C;C) |
| Reference | Rs29001685(T;T) |
| Significance | Other |
| Disease | Pyknodysostosis |
| Variation | info |
| Gene | CTSK |
| CLNDBN | Pyknodysostosis |
| Reversed | 1 |
| HGVS | NC_000001.10:g.150769339A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008937.5, |
