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rs386833461

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CAAC;CAAC) 0 common in clinvar
Make rs386833461(-;-)
Make rs386833461(-;CAAC)
ReferenceGRCh38 38.1/141
Chromosome7
Position107776667
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833461
ebirs386833461
HLIrs386833461
Exacrs386833461
Varsomers386833461
Maprs386833461
PheGenIrs386833461
hapmaprs386833461
1000 genomesrs386833461
hgdprs386833461
ensemblrs386833461
gopubmedrs386833461
geneviewrs386833461
scholarrs386833461
googlers386833461
pharmgkbrs386833461
gwascentralrs386833461
openSNPrs386833461
23andMers386833461
23andMe allrs386833461
SNP Nexus

SNPshotrs386833461
SNPdbers386833461
MSV3drs386833461
GWAS Ctlgrs386833461
Max Magnitude0
ClinVar
Risk rs386833461(;)
Alt rs386833461(;)
Reference rs386833461(CAAC;CAAC)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107417112_107417115delGTTG
CLNSRC ClinVar
CLNACC RCV000049388.1,


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