rs114368325
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs114368325(A;A) |
| Make rs114368325(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 20 |
| Position | 54158136 |
| Gene | CYP24A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs114368325 |
| dbSNP (classic) | rs114368325 |
| ClinGen | rs114368325 |
| ebi | rs114368325 |
| HLI | rs114368325 |
| Exac | rs114368325 |
| Gnomad | rs114368325 |
| Varsome | rs114368325 |
| LitVar | rs114368325 |
| Map | rs114368325 |
| PheGenI | rs114368325 |
| Biobank | rs114368325 |
| 1000 genomes | rs114368325 |
| hgdp | rs114368325 |
| ensembl | rs114368325 |
| geneview | rs114368325 |
| scholar | rs114368325 |
| rs114368325 | |
| pharmgkb | rs114368325 |
| gwascentral | rs114368325 |
| openSNP | rs114368325 |
| 23andMe | rs114368325 |
| SNPshot | rs114368325 |
| SNPdbe | rs114368325 |
| MSV3d | rs114368325 |
| GWAS Ctlg | rs114368325 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs114368325(A;A) rs114368325(C;C) |
| Alt | rs114368325(A;A) rs114368325(C;C) |
| Reference | Rs114368325(G;G) |
| Significance | Pathogenic |
| Disease | Idiopathic hypercalcemia of infancy Muscle cramps |
| Variation | info |
| Gene | CYP24A1 |
| CLNDBN | Idiopathic hypercalcemia of infancy Muscle cramps |
| Reversed | 0 |
| HGVS | NC_000020.10:g.52774675G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000022528.29, RCV000414890.1, |
