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rs386833478

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833478(-;-)
Make rs386833478(-;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107791868
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833478
ebirs386833478
HLIrs386833478
Exacrs386833478
Varsomers386833478
Maprs386833478
PheGenIrs386833478
hapmaprs386833478
1000 genomesrs386833478
hgdprs386833478
ensemblrs386833478
gopubmedrs386833478
geneviewrs386833478
scholarrs386833478
googlers386833478
pharmgkbrs386833478
gwascentralrs386833478
openSNPrs386833478
23andMers386833478
23andMe allrs386833478
SNP Nexus

SNPshotrs386833478
SNPdbers386833478
MSV3drs386833478
GWAS Ctlgrs386833478
Max Magnitude0
ClinVar
Risk rs386833478(;)
Alt rs386833478(;)
Reference rs386833478(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.107432313delA
CLNSRC ClinVar
CLNACC RCV000049405.1,


[PMID 8896562] Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.