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rs386833467

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833467(A;A)
Make rs386833467(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107776498
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833467
ebirs386833467
HLIrs386833467
Exacrs386833467
Varsomers386833467
Maprs386833467
PheGenIrs386833467
hapmaprs386833467
1000 genomesrs386833467
hgdprs386833467
ensemblrs386833467
gopubmedrs386833467
geneviewrs386833467
scholarrs386833467
googlers386833467
pharmgkbrs386833467
gwascentralrs386833467
openSNPrs386833467
23andMers386833467
23andMe allrs386833467
SNP Nexus

SNPshotrs386833467
SNPdbers386833467
MSV3drs386833467
GWAS Ctlgrs386833467
Max Magnitude0
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 ClinVar
CLNACC RCV000049394.1,


[PMID 11302976OA-icon.png] Distinct outcomes of chloride diarrhoea in two siblings with identical genetic background of the disease: implications for early diagnosis and treatment.