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rs386833459

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833459(-;-)
Make rs386833459(-;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position107776704
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833459
ebirs386833459
HLIrs386833459
Exacrs386833459
Varsomers386833459
Maprs386833459
PheGenIrs386833459
hapmaprs386833459
1000 genomesrs386833459
hgdprs386833459
ensemblrs386833459
gopubmedrs386833459
geneviewrs386833459
scholarrs386833459
googlers386833459
pharmgkbrs386833459
gwascentralrs386833459
openSNPrs386833459
23andMers386833459
23andMe allrs386833459
SNP Nexus

SNPshotrs386833459
SNPdbers386833459
MSV3drs386833459
GWAS Ctlgrs386833459
Max Magnitude0
ClinVar
Risk rs386833459(;)
Alt rs386833459(;)
Reference rs386833459(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.107417149delG
CLNSRC ClinVar
CLNACC RCV000049386.1,


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