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rs386833474

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833474(G;G)
Make rs386833474(G;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107767839
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833474
ebirs386833474
HLIrs386833474
Exacrs386833474
Varsomers386833474
Maprs386833474
PheGenIrs386833474
hapmaprs386833474
1000 genomesrs386833474
hgdprs386833474
ensemblrs386833474
gopubmedrs386833474
geneviewrs386833474
scholarrs386833474
googlers386833474
pharmgkbrs386833474
gwascentralrs386833474
openSNPrs386833474
23andMers386833474
23andMe allrs386833474
SNP Nexus

SNPshotrs386833474
SNPdbers386833474
MSV3drs386833474
GWAS Ctlgrs386833474
Max Magnitude0
ClinVar
Risk rs386833474(G;G)
Alt rs386833474(G;G)
Reference Rs386833474(T;T)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107408284A>C
CLNSRC ClinVar
CLNACC RCV000049401.1,


[PMID 18728535] A novel homozygous SLC26A3 nonsense mutation in a Tyrolean girl with congenital chloride diarrhea.