rs3752472
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in complete genomics |
| Make rs3752472(C;T) |
| Make rs3752472(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 33055256 |
| Gene | KL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3752472 |
| dbSNP (classic) | rs3752472 |
| ClinGen | rs3752472 |
| ebi | rs3752472 |
| HLI | rs3752472 |
| Exac | rs3752472 |
| Gnomad | rs3752472 |
| Varsome | rs3752472 |
| LitVar | rs3752472 |
| Map | rs3752472 |
| PheGenI | rs3752472 |
| Biobank | rs3752472 |
| 1000 genomes | rs3752472 |
| hgdp | rs3752472 |
| ensembl | rs3752472 |
| geneview | rs3752472 |
| scholar | rs3752472 |
| rs3752472 | |
| pharmgkb | rs3752472 |
| gwascentral | rs3752472 |
| openSNP | rs3752472 |
| 23andMe | rs3752472 |
| SNPshot | rs3752472 |
| SNPdbe | rs3752472 |
| MSV3d | rs3752472 |
| GWAS Ctlg | rs3752472 |
| GMAF | 0.03673 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 20345435] Association of carotid atherosclerosis with genetic polymorphisms of the klotho gene in patients with hypertension
[PMID 23756195] Klotho gene polymorphism of rs3752472 is associated with the risk of urinary calculi in the population of Han nationality in Eastern China
| ClinVar | |
|---|---|
| Risk | rs3752472(T;T) |
| Alt | rs3752472(T;T) |
| Reference | Rs3752472(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Tumoral calcinosis |
| Variation | info |
| Gene | KL |
| CLNDBN | Tumoral calcinosis, familial, hyperphosphatemic |
| Reversed | 0 |
| HGVS | NC_000013.10:g.33629393C>T |
| CLNSRC | |
| CLNACC | RCV000273254.1, |
