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rs386833491

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGT;GGT) 0 common in clinvar
Make rs386833491(-;-)
Make rs386833491(-;GGT)
ReferenceGRCh38 38.1/141
Chromosome7
Position107786845
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833491
ebirs386833491
HLIrs386833491
Exacrs386833491
Varsomers386833491
Maprs386833491
PheGenIrs386833491
hapmaprs386833491
1000 genomesrs386833491
hgdprs386833491
ensemblrs386833491
gopubmedrs386833491
geneviewrs386833491
scholarrs386833491
googlers386833491
pharmgkbrs386833491
gwascentralrs386833491
openSNPrs386833491
23andMers386833491
23andMe allrs386833491
SNP Nexus

SNPshotrs386833491
SNPdbers386833491
MSV3drs386833491
GWAS Ctlgrs386833491
Max Magnitude0
ClinVar
Risk rs386833491(;)
Alt rs386833491(;)
Reference rs386833491(GGT;GGT)
Significance Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107427290_107427292delACC
CLNSRC OMIM Allelic Variant
CLNACC RCV000018239.28,


[PMID 8896562] Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.


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