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rs386833445

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTCGGCATCGCAATGGTT;TTCGGCATCGCAATGGTT) 0 common in clinvar
Make rs386833445(GATGCC;GATGCC)
Make rs386833445(GATGCC;TTCGGCATCGCAATGGTT)
ReferenceGRCh38 38.1/141
Chromosome7
Position107783277
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833445
dbSNP (old)rs386833445
ClinGenrs386833445
ebirs386833445
HLIrs386833445
Exacrs386833445
Gnomadrs386833445
Varsomers386833445
Maprs386833445
PheGenIrs386833445
Biobankrs386833445
1000 genomesrs386833445
hgdprs386833445
ensemblrs386833445
gopubmedrs386833445
geneviewrs386833445
scholarrs386833445
googlers386833445
pharmgkbrs386833445
gwascentralrs386833445
openSNPrs386833445
23andMers386833445
23andMe allrs386833445
SNP Nexus

SNPshotrs386833445
SNPdbers386833445
MSV3drs386833445
GWAS Ctlgrs386833445
Max Magnitude0
ClinVar
Risk rs386833445(GATGCC;GATGCC)
Alt rs386833445(GATGCC;GATGCC)
Reference Rs386833445(TTCGGCATCGCAATGGTT;TTCGGCATCGCAATGGTT)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107423722_107423739del18insGGCATC
CLNSRC ClinVar
CLNACC RCV000049372.1,


[PMID 21394828] Update on SLC26A3 mutations in congenital chloride diarrhea.