rs386833447
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TA;TA) | 0 | common in clinvar |
Make rs386833447(-;-) |
Make rs386833447(-;TA) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 107783064 |
Gene | SLC26A3 |
is a | snp |
is | mentioned by |
dbSNP | rs386833447 |
dbSNP (classic) | rs386833447 |
ClinGen | rs386833447 |
ebi | rs386833447 |
HLI | rs386833447 |
Exac | rs386833447 |
Gnomad | rs386833447 |
Varsome | rs386833447 |
LitVar | rs386833447 |
Map | rs386833447 |
PheGenI | rs386833447 |
Biobank | rs386833447 |
1000 genomes | rs386833447 |
hgdp | rs386833447 |
ensembl | rs386833447 |
geneview | rs386833447 |
scholar | rs386833447 |
rs386833447 | |
pharmgkb | rs386833447 |
gwascentral | rs386833447 |
openSNP | rs386833447 |
23andMe | rs386833447 |
SNPshot | rs386833447 |
SNPdbe | rs386833447 |
MSV3d | rs386833447 |
GWAS Ctlg | rs386833447 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386833447(-;-) |
Alt | rs386833447(-;-) |
Reference | Rs386833447(TA;TA) |
Significance | Probable-Pathogenic |
Disease | Congenital secretory diarrhea |
Variation | info |
Gene | SLC26A3 |
CLNDBN | Congenital secretory diarrhea, chloride type |
Reversed | 1 |
HGVS | NC_000007.13:g.107423509_107423510delTA |
CLNSRC | ClinVar |
CLNACC | RCV000049374.1, |
[PMID 21150650] Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea.
[PMID 21394828] Update on SLC26A3 mutations in congenital chloride diarrhea.