rs386833496
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs386833496(A;A) |
Make rs386833496(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 149981044 |
Gene | SLC26A2 |
is a | snp |
is | mentioned by |
dbSNP | rs386833496 |
dbSNP (classic) | rs386833496 |
ClinGen | rs386833496 |
ebi | rs386833496 |
HLI | rs386833496 |
Exac | rs386833496 |
Gnomad | rs386833496 |
Varsome | rs386833496 |
LitVar | rs386833496 |
Map | rs386833496 |
PheGenI | rs386833496 |
Biobank | rs386833496 |
1000 genomes | rs386833496 |
hgdp | rs386833496 |
ensembl | rs386833496 |
geneview | rs386833496 |
scholar | rs386833496 |
rs386833496 | |
pharmgkb | rs386833496 |
gwascentral | rs386833496 |
openSNP | rs386833496 |
23andMe | rs386833496 |
SNPshot | rs386833496 |
SNPdbe | rs386833496 |
MSV3d | rs386833496 |
GWAS Ctlg | rs386833496 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833496(A;A) |
Alt | rs386833496(A;A) |
Reference | Rs386833496(G;G) |
Significance | Probable-Pathogenic |
Disease | Diastrophic dysplasia |
Variation | info |
Gene | SLC26A2 |
CLNDBN | Diastrophic dysplasia |
Reversed | 0 |
HGVS | NC_000005.9:g.149360607G>A |
CLNSRC | ClinVar |
CLNACC | RCV000049424.1, |
[PMID 11241838] Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance.