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rs386833479

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833479(A;A)
Make rs386833479(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107791854
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833479
ebirs386833479
HLIrs386833479
Exacrs386833479
Varsomers386833479
Maprs386833479
PheGenIrs386833479
hapmaprs386833479
1000 genomesrs386833479
hgdprs386833479
ensemblrs386833479
gopubmedrs386833479
geneviewrs386833479
scholarrs386833479
googlers386833479
pharmgkbrs386833479
gwascentralrs386833479
openSNPrs386833479
23andMers386833479
23andMe allrs386833479
SNP Nexus

SNPshotrs386833479
SNPdbers386833479
MSV3drs386833479
GWAS Ctlgrs386833479
Max Magnitude0
ClinVar
Risk rs386833479(A;A)
Alt rs386833479(A;A)
Reference rs386833479(G;G)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107432299C>T
CLNSRC ClinVar
CLNACC RCV000049406.1,


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


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