rs386833467
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs386833467(A;A) |
Make rs386833467(A;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 107776498 |
Gene | SLC26A3 |
is a | snp |
is | mentioned by |
dbSNP | rs386833467 |
dbSNP (classic) | rs386833467 |
ClinGen | rs386833467 |
ebi | rs386833467 |
HLI | rs386833467 |
Exac | rs386833467 |
Gnomad | rs386833467 |
Varsome | rs386833467 |
LitVar | rs386833467 |
Map | rs386833467 |
PheGenI | rs386833467 |
Biobank | rs386833467 |
1000 genomes | rs386833467 |
hgdp | rs386833467 |
ensembl | rs386833467 |
geneview | rs386833467 |
scholar | rs386833467 |
rs386833467 | |
pharmgkb | rs386833467 |
gwascentral | rs386833467 |
openSNP | rs386833467 |
23andMe | rs386833467 |
SNPshot | rs386833467 |
SNPdbe | rs386833467 |
MSV3d | rs386833467 |
GWAS Ctlg | rs386833467 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833467(A;A) |
Alt | rs386833467(A;A) |
Reference | Rs386833467(T;T) |
Significance | Probable-Pathogenic |
Disease | Congenital secretory diarrhea |
Variation | info |
Gene | SLC26A3 |
CLNDBN | Congenital secretory diarrhea, chloride type |
Reversed | 1 |
HGVS | NC_000007.13:g.107416943A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000049394.1, |
[PMID 11302976] Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment.