rs386833500
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs386833500(-;-) |
Make rs386833500(-;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 149981576 |
Gene | SLC26A2 |
is a | snp |
is | mentioned by |
dbSNP | rs386833500 |
dbSNP (classic) | rs386833500 |
ClinGen | rs386833500 |
ebi | rs386833500 |
HLI | rs386833500 |
Exac | rs386833500 |
Gnomad | rs386833500 |
Varsome | rs386833500 |
LitVar | rs386833500 |
Map | rs386833500 |
PheGenI | rs386833500 |
Biobank | rs386833500 |
1000 genomes | rs386833500 |
hgdp | rs386833500 |
ensembl | rs386833500 |
geneview | rs386833500 |
scholar | rs386833500 |
rs386833500 | |
pharmgkb | rs386833500 |
gwascentral | rs386833500 |
openSNP | rs386833500 |
23andMe | rs386833500 |
SNPshot | rs386833500 |
SNPdbe | rs386833500 |
MSV3d | rs386833500 |
GWAS Ctlg | rs386833500 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833500(-;-) |
Alt | rs386833500(-;-) |
Reference | Rs386833500(A;A) |
Significance | Probable-Pathogenic |
Disease | Diastrophic dysplasia |
Variation | info |
Gene | SLC26A2 |
CLNDBN | Diastrophic dysplasia |
Reversed | 0 |
HGVS | NC_000005.9:g.149361139delA |
CLNSRC | ClinVar |
CLNACC | RCV000049428.1, |
[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.