rs386833454
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs386833454(A;T) |
Make rs386833454(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 107779672 |
Gene | SLC26A3 |
is a | snp |
is | mentioned by |
dbSNP | rs386833454 |
dbSNP (classic) | rs386833454 |
ClinGen | rs386833454 |
ebi | rs386833454 |
HLI | rs386833454 |
Exac | rs386833454 |
Gnomad | rs386833454 |
Varsome | rs386833454 |
LitVar | rs386833454 |
Map | rs386833454 |
PheGenI | rs386833454 |
Biobank | rs386833454 |
1000 genomes | rs386833454 |
hgdp | rs386833454 |
ensembl | rs386833454 |
geneview | rs386833454 |
scholar | rs386833454 |
rs386833454 | |
pharmgkb | rs386833454 |
gwascentral | rs386833454 |
openSNP | rs386833454 |
23andMe | rs386833454 |
SNPshot | rs386833454 |
SNPdbe | rs386833454 |
MSV3d | rs386833454 |
GWAS Ctlg | rs386833454 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833454(T;T) |
Alt | rs386833454(T;T) |
Reference | Rs386833454(A;A) |
Significance | Probable-Pathogenic |
Disease | Congenital secretory diarrhea |
Variation | info |
Gene | SLC26A3 |
CLNDBN | Congenital secretory diarrhea, chloride type |
Reversed | 1 |
HGVS | NC_000007.13:g.107420117T>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000049381.1, |
[PMID 11524734] Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.