rs863224872
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a tumoral calcinosis mutation |
| (G;G) | 0 | common in clinvar |
| Make rs863224872(A;A) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 12 |
| Position | 4372649 |
| Gene | FGF23 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863224872 |
| dbSNP (classic) | rs863224872 |
| ClinGen | rs863224872 |
| ebi | rs863224872 |
| HLI | rs863224872 |
| Exac | rs863224872 |
| Gnomad | rs863224872 |
| Varsome | rs863224872 |
| LitVar | rs863224872 |
| Map | rs863224872 |
| PheGenI | rs863224872 |
| Biobank | rs863224872 |
| 1000 genomes | rs863224872 |
| hgdp | rs863224872 |
| ensembl | rs863224872 |
| geneview | rs863224872 |
| scholar | rs863224872 |
| rs863224872 | |
| pharmgkb | rs863224872 |
| gwascentral | rs863224872 |
| openSNP | rs863224872 |
| 23andMe | rs863224872 |
| SNPshot | rs863224872 |
| SNPdbe | rs863224872 |
| MSV3d | rs863224872 |
| GWAS Ctlg | rs863224872 |
| Max Magnitude | 3 |
aka c.260G>A (p.Gly87Asp or G87D)
| ClinVar | |
|---|---|
| Risk | rs863224872(A;A) |
| Alt | rs863224872(A;A) |
| Reference | Rs863224872(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Tumoral calcinosis |
| Variation | info |
| Gene | FGF23 |
| CLNDBN | Tumoral calcinosis, familial, hyperphosphatemic |
| Reversed | 1 |
| HGVS | NC_000012.11:g.4481815C>T |
| CLNSRC | |
| CLNACC | RCV000197637.1, |
