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rs386833484

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833484(C;C)
Make rs386833484(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107791093
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833484
ebirs386833484
HLIrs386833484
Exacrs386833484
Varsomers386833484
Maprs386833484
PheGenIrs386833484
hapmaprs386833484
1000 genomesrs386833484
hgdprs386833484
ensemblrs386833484
gopubmedrs386833484
geneviewrs386833484
scholarrs386833484
googlers386833484
pharmgkbrs386833484
gwascentralrs386833484
openSNPrs386833484
23andMers386833484
23andMe allrs386833484
SNP Nexus

SNPshotrs386833484
SNPdbers386833484
MSV3drs386833484
GWAS Ctlgrs386833484
Max Magnitude0
ClinVar
Risk rs386833484(C;C)
Alt rs386833484(C;C)
Reference rs386833484(G;G)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107431538C>G
CLNSRC ClinVar
CLNACC RCV000049412.1,


[PMID 22779076OA-icon.png] Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.