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rs386833468

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833468(-;-)
Make rs386833468(-;C)
Make rs386833468(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position107793835
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833468
ebirs386833468
HLIrs386833468
Exacrs386833468
Varsomers386833468
Maprs386833468
PheGenIrs386833468
hapmaprs386833468
1000 genomesrs386833468
hgdprs386833468
ensemblrs386833468
gopubmedrs386833468
geneviewrs386833468
scholarrs386833468
googlers386833468
pharmgkbrs386833468
gwascentralrs386833468
openSNPrs386833468
23andMers386833468
23andMe allrs386833468
SNP Nexus

SNPshotrs386833468
SNPdbers386833468
MSV3drs386833468
GWAS Ctlgrs386833468
Max Magnitude0
ClinVar
Risk rs386833468(C;C)
Alt rs386833468(C;C)
Reference rs386833468(;)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107434281dupG
CLNSRC ClinVar
CLNACC RCV000049395.1,


[PMID 9554749] Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.