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rs386833458

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833458(-;-)
Make rs386833458(-;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position107776708
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833458
ebirs386833458
HLIrs386833458
Exacrs386833458
Varsomers386833458
Maprs386833458
PheGenIrs386833458
hapmaprs386833458
1000 genomesrs386833458
hgdprs386833458
ensemblrs386833458
gopubmedrs386833458
geneviewrs386833458
scholarrs386833458
googlers386833458
pharmgkbrs386833458
gwascentralrs386833458
openSNPrs386833458
23andMers386833458
23andMe allrs386833458
SNP Nexus

SNPshotrs386833458
SNPdbers386833458
MSV3drs386833458
GWAS Ctlgrs386833458
Max Magnitude0
ClinVar
Risk rs386833458(;)
Alt rs386833458(;)
Reference rs386833458(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.107417153delT
CLNSRC ClinVar
CLNACC RCV000049385.1,


[PMID 11524734] Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.