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rs386833469

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833469(-;-)
Make rs386833469(-;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107773937
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833469
ebirs386833469
HLIrs386833469
Exacrs386833469
Varsomers386833469
Maprs386833469
PheGenIrs386833469
hapmaprs386833469
1000 genomesrs386833469
hgdprs386833469
ensemblrs386833469
gopubmedrs386833469
geneviewrs386833469
scholarrs386833469
googlers386833469
pharmgkbrs386833469
gwascentralrs386833469
openSNPrs386833469
23andMers386833469
23andMe allrs386833469
SNP Nexus

SNPshotrs386833469
SNPdbers386833469
MSV3drs386833469
GWAS Ctlgrs386833469
Max Magnitude0
ClinVar
Risk rs386833469(;)
Alt rs386833469(;)
Reference rs386833469(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.107414382delC
CLNSRC ClinVar
CLNACC RCV000049396.1,


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