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rs386833473

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833473(-;-)
Make rs386833473(-;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position107767855
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833473
ebirs386833473
HLIrs386833473
Exacrs386833473
Varsomers386833473
Maprs386833473
PheGenIrs386833473
hapmaprs386833473
1000 genomesrs386833473
hgdprs386833473
ensemblrs386833473
gopubmedrs386833473
geneviewrs386833473
scholarrs386833473
googlers386833473
pharmgkbrs386833473
gwascentralrs386833473
openSNPrs386833473
23andMers386833473
23andMe allrs386833473
SNP Nexus

SNPshotrs386833473
SNPdbers386833473
MSV3drs386833473
GWAS Ctlgrs386833473
Max Magnitude0
ClinVar
Risk rs386833473(;)
Alt rs386833473(;)
Reference rs386833473(A;A)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107408300delT
CLNSRC ClinVar
CLNACC RCV000049400.1,


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