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rs386833481

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833481(C;G)
Make rs386833481(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107791226
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833481
ebirs386833481
HLIrs386833481
Exacrs386833481
Varsomers386833481
Maprs386833481
PheGenIrs386833481
hapmaprs386833481
1000 genomesrs386833481
hgdprs386833481
ensemblrs386833481
gopubmedrs386833481
geneviewrs386833481
scholarrs386833481
googlers386833481
pharmgkbrs386833481
gwascentralrs386833481
openSNPrs386833481
23andMers386833481
23andMe allrs386833481
SNP Nexus

SNPshotrs386833481
SNPdbers386833481
MSV3drs386833481
GWAS Ctlgrs386833481
Max Magnitude0
ClinVar
Risk rs386833481(G,T;G,T)
Alt rs386833481(G,T;G,T)
Reference rs386833481(C;C)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107431671G>A; NC_000007.13:g.107431671G>C
CLNSRC ClinVar
CLNACC RCV000049409.1, RCV000049408.1,


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


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