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rs386833477

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833477(-;-)
Make rs386833477(-;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107791880
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833477
ebirs386833477
HLIrs386833477
Exacrs386833477
Varsomers386833477
Maprs386833477
PheGenIrs386833477
hapmaprs386833477
1000 genomesrs386833477
hgdprs386833477
ensemblrs386833477
gopubmedrs386833477
geneviewrs386833477
scholarrs386833477
googlers386833477
pharmgkbrs386833477
gwascentralrs386833477
openSNPrs386833477
23andMers386833477
23andMe allrs386833477
SNP Nexus

SNPshotrs386833477
SNPdbers386833477
MSV3drs386833477
GWAS Ctlgrs386833477
Max Magnitude0
ClinVar
Risk rs386833477(;)
Alt rs386833477(;)
Reference rs386833477(T;T)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107432325delA
CLNSRC ClinVar
CLNACC RCV000049404.1,


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