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rs386833489

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833489(A;C)
Make rs386833489(C;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position107789600
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833489
ebirs386833489
HLIrs386833489
Exacrs386833489
Varsomers386833489
Maprs386833489
PheGenIrs386833489
hapmaprs386833489
1000 genomesrs386833489
hgdprs386833489
ensemblrs386833489
gopubmedrs386833489
geneviewrs386833489
scholarrs386833489
googlers386833489
pharmgkbrs386833489
gwascentralrs386833489
openSNPrs386833489
23andMers386833489
23andMe allrs386833489
SNP Nexus

SNPshotrs386833489
SNPdbers386833489
MSV3drs386833489
GWAS Ctlgrs386833489
Max Magnitude0
ClinVar
Risk rs386833489(C;C)
Alt rs386833489(C;C)
Reference rs386833489(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.107430045T>G
CLNSRC ClinVar
CLNACC RCV000049417.1,


[PMID 21150650] Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea.


[PMID 21394828] Update on SLC26A3 mutations in congenital chloride diarrhea.