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rs386833471

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833471(G;T)
Make rs386833471(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107767909
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833471
ebirs386833471
HLIrs386833471
Exacrs386833471
Varsomers386833471
Maprs386833471
PheGenIrs386833471
hapmaprs386833471
1000 genomesrs386833471
hgdprs386833471
ensemblrs386833471
gopubmedrs386833471
geneviewrs386833471
scholarrs386833471
googlers386833471
pharmgkbrs386833471
gwascentralrs386833471
openSNPrs386833471
23andMers386833471
23andMe allrs386833471
SNP Nexus

SNPshotrs386833471
SNPdbers386833471
MSV3drs386833471
GWAS Ctlgrs386833471
Max Magnitude0
ClinVar
Risk rs386833471(T;T)
Alt rs386833471(T;T)
Reference rs386833471(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.107408354C>A
CLNSRC ClinVar
CLNACC RCV000049398.1,


[PMID 22779076OA-icon.png] Identification of SLC26A3 mutations in a Korean patient with congenital chloride diarrhea.