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rs386833456

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAGGCCAAGAGAA;AAGGCCAAGAGAA) 0 common in clinvar
Make rs386833456(-;-)
Make rs386833456(-;AAGGCCAAGAGAA)
ReferenceGRCh38 38.1/141
Chromosome7
Position107793856
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833456
ebirs386833456
HLIrs386833456
Exacrs386833456
Varsomers386833456
Maprs386833456
PheGenIrs386833456
hapmaprs386833456
1000 genomesrs386833456
hgdprs386833456
ensemblrs386833456
gopubmedrs386833456
geneviewrs386833456
scholarrs386833456
googlers386833456
pharmgkbrs386833456
gwascentralrs386833456
openSNPrs386833456
23andMers386833456
23andMe allrs386833456
SNP Nexus

SNPshotrs386833456
SNPdbers386833456
MSV3drs386833456
GWAS Ctlgrs386833456
Max Magnitude0
ClinVar
Risk rs386833456(;)
Alt rs386833456(;)
Reference rs386833456(AAGGCCAAGAGAA;AAGGCCAAGAGAA)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107434301_107434313delTTCTCTTGGCCTT
CLNSRC ClinVar
CLNACC RCV000049383.1,


[PMID 12442266] SLC26A3 mutations in congenital chloride diarrhea.