rs648202
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs648202(C;C) |
| Make rs648202(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 33061326 |
| Gene | KL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs648202 |
| dbSNP (classic) | rs648202 |
| ClinGen | rs648202 |
| ebi | rs648202 |
| HLI | rs648202 |
| Exac | rs648202 |
| Gnomad | rs648202 |
| Varsome | rs648202 |
| LitVar | rs648202 |
| Map | rs648202 |
| PheGenI | rs648202 |
| Biobank | rs648202 |
| 1000 genomes | rs648202 |
| hgdp | rs648202 |
| ensembl | rs648202 |
| geneview | rs648202 |
| scholar | rs648202 |
| rs648202 | |
| pharmgkb | rs648202 |
| gwascentral | rs648202 |
| openSNP | rs648202 |
| 23andMe | rs648202 |
| SNPshot | rs648202 |
| SNPdbe | rs648202 |
| MSV3d | rs648202 |
| GWAS Ctlg | rs648202 |
| GMAF | 0.27 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20394945] Infantile hypercalcemia and hypercalciuria: new insights into a vitamin D-dependent mechanism and response to ketoconazole treatment
[PMID 20401335
] Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.
| ClinVar | |
|---|---|
| Risk | rs648202(C;C) |
| Alt | rs648202(C;C) |
| Reference | Rs648202(T;T) |
| Significance | Non-pathogenic |
| Disease | Tumoral calcinosis |
| Variation | info |
| Gene | KL |
| CLNDBN | Tumoral calcinosis, familial, hyperphosphatemic |
| Reversed | 0 |
| HGVS | NC_000013.10:g.33635463T>C |
| CLNSRC | |
| CLNACC | RCV000294071.1, |
