rs386833491
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 5.8 | Congenital secretory diarrhea (predicted) |
(-;GGT) | 3 | Carrier for a congenital secretory diarrhea mutation |
(GGT;GGT) | 0 | common in clinvar |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 107786845 |
Gene | SLC26A3 |
is a | snp |
is | mentioned by |
dbSNP | rs386833491 |
dbSNP (classic) | rs386833491 |
ClinGen | rs386833491 |
ebi | rs386833491 |
HLI | rs386833491 |
Exac | rs386833491 |
Gnomad | rs386833491 |
Varsome | rs386833491 |
LitVar | rs386833491 |
Map | rs386833491 |
PheGenI | rs386833491 |
Biobank | rs386833491 |
1000 genomes | rs386833491 |
hgdp | rs386833491 |
ensembl | rs386833491 |
geneview | rs386833491 |
scholar | rs386833491 |
rs386833491 | |
pharmgkb | rs386833491 |
gwascentral | rs386833491 |
openSNP | rs386833491 |
23andMe | rs386833491 |
SNPshot | rs386833491 |
SNPdbe | rs386833491 |
MSV3d | rs386833491 |
GWAS Ctlg | rs386833491 |
Merged from | Rs121913029 |
Max Magnitude | 5.8 |
aka c.951_953delGGT (p.Val318del)
ClinVar | |
---|---|
Risk | rs386833491(GTG;GTG) Rs386833491(-;-) |
Alt | rs386833491(GTG;GTG) Rs386833491(-;-) |
Reference | Rs386833491(GGT;GGT) |
Significance | Pathogenic |
Disease | Congenital secretory diarrhea |
Variation | info |
Gene | SLC26A3 |
CLNDBN | Congenital secretory diarrhea, chloride type |
Reversed | 1 |
HGVS | NC_000007.13:g.107427290_107427292delACC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000018239.28, |
[PMID 8896562] Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.
[PMID 21394828] Update on SLC26A3 mutations in congenital chloride diarrhea.