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rs386833490

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833490(C;T)
Make rs386833490(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107786883
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833490
ebirs386833490
HLIrs386833490
Exacrs386833490
Varsomers386833490
Maprs386833490
PheGenIrs386833490
hapmaprs386833490
1000 genomesrs386833490
hgdprs386833490
ensemblrs386833490
gopubmedrs386833490
geneviewrs386833490
scholarrs386833490
googlers386833490
pharmgkbrs386833490
gwascentralrs386833490
openSNPrs386833490
23andMers386833490
23andMe allrs386833490
SNP Nexus

SNPshotrs386833490
SNPdbers386833490
MSV3drs386833490
GWAS Ctlgrs386833490
Max Magnitude0
ClinVar
Risk rs386833490(A,T;A,T)
Alt rs386833490(A,T;A,T)
Reference rs386833490(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.107427328G>T
CLNSRC ClinVar
CLNACC RCV000049418.1,


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