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rs386833460

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GC;GC) 0 common in clinvar
Make rs386833460(-;-)
Make rs386833460(-;GC)
ReferenceGRCh38 38.1/141
Chromosome7
Position107776694
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833460
ebirs386833460
HLIrs386833460
Exacrs386833460
Varsomers386833460
Maprs386833460
PheGenIrs386833460
hapmaprs386833460
1000 genomesrs386833460
hgdprs386833460
ensemblrs386833460
gopubmedrs386833460
geneviewrs386833460
scholarrs386833460
googlers386833460
pharmgkbrs386833460
gwascentralrs386833460
openSNPrs386833460
23andMers386833460
23andMe allrs386833460
SNP Nexus

SNPshotrs386833460
SNPdbers386833460
MSV3drs386833460
GWAS Ctlgrs386833460
Max Magnitude0
ClinVar
Risk rs386833460(;)
Alt rs386833460(;)
Reference rs386833460(GC;GC)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107417139_107417140delGC
CLNSRC ClinVar
CLNACC RCV000049387.1,


[PMID 10671059] A novel mutation of the down-regulated in adenoma gene in a Japanese case with congential chloride diarrhea. Mutations in brief no. 198. Online.