rs386833504
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs386833504(A;A) |
| Make rs386833504(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 149978055 |
| Gene | SLC26A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs386833504 |
| dbSNP (classic) | rs386833504 |
| ClinGen | rs386833504 |
| ebi | rs386833504 |
| HLI | rs386833504 |
| Exac | rs386833504 |
| Gnomad | rs386833504 |
| Varsome | rs386833504 |
| LitVar | rs386833504 |
| Map | rs386833504 |
| PheGenI | rs386833504 |
| Biobank | rs386833504 |
| 1000 genomes | rs386833504 |
| hgdp | rs386833504 |
| ensembl | rs386833504 |
| geneview | rs386833504 |
| scholar | rs386833504 |
| rs386833504 | |
| pharmgkb | rs386833504 |
| gwascentral | rs386833504 |
| openSNP | rs386833504 |
| 23andMe | rs386833504 |
| SNPshot | rs386833504 |
| SNPdbe | rs386833504 |
| MSV3d | rs386833504 |
| GWAS Ctlg | rs386833504 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs386833504(A;A) |
| Alt | rs386833504(A;A) |
| Reference | Rs386833504(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Diastrophic dysplasia |
| Variation | info |
| Gene | SLC26A2 |
| CLNDBN | Diastrophic dysplasia |
| Reversed | 0 |
| HGVS | NC_000005.9:g.149357618C>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000049432.1, |
[PMID 11241838] Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.
