rs200963884
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs200963884(C;C) |
| Make rs200963884(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 5 |
| Position | 149980292 |
| Gene | SLC26A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs200963884 |
| dbSNP (classic) | rs200963884 |
| ClinGen | rs200963884 |
| ebi | rs200963884 |
| HLI | rs200963884 |
| Exac | rs200963884 |
| Gnomad | rs200963884 |
| Varsome | rs200963884 |
| LitVar | rs200963884 |
| Map | rs200963884 |
| PheGenI | rs200963884 |
| Biobank | rs200963884 |
| 1000 genomes | rs200963884 |
| hgdp | rs200963884 |
| ensembl | rs200963884 |
| geneview | rs200963884 |
| scholar | rs200963884 |
| rs200963884 | |
| pharmgkb | rs200963884 |
| gwascentral | rs200963884 |
| openSNP | rs200963884 |
| 23andMe | rs200963884 |
| SNPshot | rs200963884 |
| SNPdbe | rs200963884 |
| MSV3d | rs200963884 |
| GWAS Ctlg | rs200963884 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs200963884(C;C) |
| Alt | rs200963884(C;C) |
| Reference | Rs200963884(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Diastrophic dysplasia Multiple epiphyseal dysplasia 4 |
| Variation | info |
| Gene | SLC26A2 |
| CLNDBN | Diastrophic dysplasia Multiple epiphyseal dysplasia 4 |
| Reversed | 0 |
| HGVS | NC_000005.9:g.149359855G>C |
| CLNSRC | ClinVar |
| CLNACC | RCV000049436.1, RCV000169177.1, |
[PMID 7923357] The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping.
[PMID 8702127] A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycans.
[PMID 8723100] A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.
[PMID 21155763] Clinical and molecular characterization of Diastrophic Dysplasia in the Portuguese population.
