rs7955866
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs7955866(A;A) |
| Make rs7955866(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 4370383 |
| Gene | FGF23 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7955866 |
| dbSNP (classic) | rs7955866 |
| ClinGen | rs7955866 |
| ebi | rs7955866 |
| HLI | rs7955866 |
| Exac | rs7955866 |
| Gnomad | rs7955866 |
| Varsome | rs7955866 |
| LitVar | rs7955866 |
| Map | rs7955866 |
| PheGenI | rs7955866 |
| Biobank | rs7955866 |
| 1000 genomes | rs7955866 |
| hgdp | rs7955866 |
| ensembl | rs7955866 |
| geneview | rs7955866 |
| scholar | rs7955866 |
| rs7955866 | |
| pharmgkb | rs7955866 |
| gwascentral | rs7955866 |
| openSNP | rs7955866 |
| 23andMe | rs7955866 |
| SNPshot | rs7955866 |
| SNPdbe | rs7955866 |
| MSV3d | rs7955866 |
| GWAS Ctlg | rs7955866 |
| GMAF | 0.1382 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 20394945] Infantile hypercalcemia and hypercalciuria: new insights into a vitamin D-dependent mechanism and response to ketoconazole treatment
[PMID 22419710] A Functional Allelic Variant of the FGF23 Gene Is Associated with Renal Phosphate Leak in Calcium Nephrolithiasis
[PMID 25445451] FGF23 gene variation and its association with phosphate homeostasis and bone mineral density in Finnish children and adolescents
| ClinVar | |
|---|---|
| Risk | rs7955866(A;A) |
| Alt | rs7955866(A;A) |
| Reference | Rs7955866(G;G) |
| Significance | Non-pathogenic |
| Disease | Tumoral calcinosis Hypophosphatemic Rickets |
| Variation | info |
| Gene | FGF23 |
| CLNDBN | Tumoral calcinosis, familial, hyperphosphatemic Hypophosphatemic Rickets, Dominant |
| Reversed | 0 |
| HGVS | NC_000012.11:g.4479549G>A |
| CLNSRC | |
| CLNACC | RCV000262068.1, RCV000321863.1, |
