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rs386833451

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833451(C;T)
Make rs386833451(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107779715
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833451
ebirs386833451
HLIrs386833451
Exacrs386833451
Varsomers386833451
Maprs386833451
PheGenIrs386833451
hapmaprs386833451
1000 genomesrs386833451
hgdprs386833451
ensemblrs386833451
gopubmedrs386833451
geneviewrs386833451
scholarrs386833451
googlers386833451
pharmgkbrs386833451
gwascentralrs386833451
openSNPrs386833451
23andMers386833451
23andMe allrs386833451
SNP Nexus

SNPshotrs386833451
SNPdbers386833451
MSV3drs386833451
GWAS Ctlgrs386833451
Max Magnitude0
ClinVar
Risk rs386833451(T;T)
Alt rs386833451(T;T)
Reference rs386833451(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.107420160G>A
CLNSRC ClinVar
CLNACC RCV000049378.1,


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