rs121918239
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Carrier of a mutation for hypophosphatemic rickets with hypercalciuria |
| (G;G) | 0 | common in clinvar |
| Make rs121918239(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 137233404 |
| Gene | SLC34A3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918239 |
| dbSNP (classic) | rs121918239 |
| ClinGen | rs121918239 |
| ebi | rs121918239 |
| HLI | rs121918239 |
| Exac | rs121918239 |
| Gnomad | rs121918239 |
| Varsome | rs121918239 |
| LitVar | rs121918239 |
| Map | rs121918239 |
| PheGenI | rs121918239 |
| Biobank | rs121918239 |
| 1000 genomes | rs121918239 |
| hgdp | rs121918239 |
| ensembl | rs121918239 |
| geneview | rs121918239 |
| scholar | rs121918239 |
| rs121918239 | |
| pharmgkb | rs121918239 |
| gwascentral | rs121918239 |
| openSNP | rs121918239 |
| 23andMe | rs121918239 |
| SNPshot | rs121918239 |
| SNPdbe | rs121918239 |
| MSV3d | rs121918239 |
| GWAS Ctlg | rs121918239 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
rs121918239, also known as c.756G>A, is a relatively rare mutation in the SLC34A3 gene on chromosome 9.
The rs121918239(A) mutation is considered pathogenic for hypophosphatemic rickets with hypercalciuria, a recessively inherited condition.
| ClinVar | |
|---|---|
| Risk | rs121918239(A;A) |
| Alt | rs121918239(A;A) |
| Reference | Rs121918239(G;G) |
| Significance | Pathogenic |
| Disease | Autosomal recessive hypophosphatemic bone disease |
| Variation | info |
| Gene | SLC34A3 |
| CLNDBN | Autosomal recessive hypophosphatemic bone disease |
| Reversed | 0 |
| HGVS | NC_000009.11:g.140127856G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001499.4, |
