rs564481
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs564481(C;T) |
| Make rs564481(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 33060846 |
| Gene | KL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs564481 |
| dbSNP (classic) | rs564481 |
| ClinGen | rs564481 |
| ebi | rs564481 |
| HLI | rs564481 |
| Exac | rs564481 |
| Gnomad | rs564481 |
| Varsome | rs564481 |
| LitVar | rs564481 |
| Map | rs564481 |
| PheGenI | rs564481 |
| Biobank | rs564481 |
| 1000 genomes | rs564481 |
| hgdp | rs564481 |
| ensembl | rs564481 |
| geneview | rs564481 |
| scholar | rs564481 |
| rs564481 | |
| pharmgkb | rs564481 |
| gwascentral | rs564481 |
| openSNP | rs564481 |
| 23andMe | rs564481 |
| SNPshot | rs564481 |
| SNPdbe | rs564481 |
| MSV3d | rs564481 |
| GWAS Ctlg | rs564481 |
| GMAF | 0.2599 |
| Max Magnitude | 0 |
[PMID 20394945] Infantile hypercalcemia and hypercalciuria: new insights into a vitamin D-dependent mechanism and response to ketoconazole treatment[PMID 21695423
] Klotho locus, metabolic traits, and serum hemoglobin in hospitalized older patients: a genetic association analysis.
| ClinVar | |
|---|---|
| Risk | rs564481(A;A) rs564481(T;T) |
| Alt | rs564481(A;A) rs564481(T;T) |
| Reference | Rs564481(C;C) |
| Significance | Non-pathogenic |
| Disease | Tumoral calcinosis |
| Variation | info |
| Gene | KL |
| CLNDBN | Tumoral calcinosis, familial, hyperphosphatemic |
| Reversed | 0 |
| HGVS | NC_000013.10:g.33634983C>T |
| CLNSRC | |
| CLNACC | RCV000295187.1, |
