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rs386833446

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833446(C;C)
Make rs386833446(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107783077
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833446
ebirs386833446
HLIrs386833446
Exacrs386833446
Varsomers386833446
Maprs386833446
PheGenIrs386833446
hapmaprs386833446
1000 genomesrs386833446
hgdprs386833446
ensemblrs386833446
gopubmedrs386833446
geneviewrs386833446
scholarrs386833446
googlers386833446
pharmgkbrs386833446
gwascentralrs386833446
openSNPrs386833446
23andMers386833446
23andMe allrs386833446
SNP Nexus

SNPshotrs386833446
SNPdbers386833446
MSV3drs386833446
GWAS Ctlgrs386833446
Max Magnitude0
ClinVar
Risk rs386833446(C;C)
Alt rs386833446(C;C)
Reference rs386833446(G;G)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107423522C>G
CLNSRC ClinVar
CLNACC RCV000049373.1,


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