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rs386833482

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833482(-;-)
Make rs386833482(-;C)
ReferenceGRCh38 38.1/141
Chromosome7
Position107791226
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833482
ebirs386833482
HLIrs386833482
Exacrs386833482
Varsomers386833482
Maprs386833482
PheGenIrs386833482
hapmaprs386833482
1000 genomesrs386833482
hgdprs386833482
ensemblrs386833482
gopubmedrs386833482
geneviewrs386833482
scholarrs386833482
googlers386833482
pharmgkbrs386833482
gwascentralrs386833482
openSNPrs386833482
23andMers386833482
23andMe allrs386833482
SNP Nexus

SNPshotrs386833482
SNPdbers386833482
MSV3drs386833482
GWAS Ctlgrs386833482
Max Magnitude0
ClinVar
Risk rs386833482(;)
Alt rs386833482(;)
Reference rs386833482(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.107431671delG
CLNSRC ClinVar
CLNACC RCV000049410.1,


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