rs121918237
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | carrier of one hypophosphatemic bone disease allele |
| (G;G) | 0 | common in clinvar |
| Make rs121918237(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 137233234 |
| Gene | SLC34A3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918237 |
| dbSNP (classic) | rs121918237 |
| ClinGen | rs121918237 |
| ebi | rs121918237 |
| HLI | rs121918237 |
| Exac | rs121918237 |
| Gnomad | rs121918237 |
| Varsome | rs121918237 |
| LitVar | rs121918237 |
| Map | rs121918237 |
| PheGenI | rs121918237 |
| Biobank | rs121918237 |
| 1000 genomes | rs121918237 |
| hgdp | rs121918237 |
| ensembl | rs121918237 |
| geneview | rs121918237 |
| scholar | rs121918237 |
| rs121918237 | |
| pharmgkb | rs121918237 |
| gwascentral | rs121918237 |
| openSNP | rs121918237 |
| 23andMe | rs121918237 |
| SNPshot | rs121918237 |
| SNPdbe | rs121918237 |
| MSV3d | rs121918237 |
| GWAS Ctlg | rs121918237 |
| Max Magnitude | 3 |
rs121918237, also known as c.586G>A, p.Gly196Arg and G196R, represents a rare mutation in the SLC34A3 gene on chromosome 9. This is a very rare minor allele; observed only 2 times out of 26568 alleles in ExAC, 0 homozygotes, and a MAF of 0.000075.
A report published in 2006 indicates that the rare (A) allele was one of two compound heterozygote mutations inherited in recessive fashion together that led to hypophosphatemic bone disease.[PMID 16358214
]
See also OMIM 609826.0006
| ClinVar | |
|---|---|
| Risk | rs121918237(A;A) |
| Alt | rs121918237(A;A) |
| Reference | Rs121918237(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.140127686G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001496.3, |
