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rs386833480

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833480(C;T)
Make rs386833480(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107791232
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833480
ebirs386833480
HLIrs386833480
Exacrs386833480
Varsomers386833480
Maprs386833480
PheGenIrs386833480
hapmaprs386833480
1000 genomesrs386833480
hgdprs386833480
ensemblrs386833480
gopubmedrs386833480
geneviewrs386833480
scholarrs386833480
googlers386833480
pharmgkbrs386833480
gwascentralrs386833480
openSNPrs386833480
23andMers386833480
23andMe allrs386833480
SNP Nexus

SNPshotrs386833480
SNPdbers386833480
MSV3drs386833480
GWAS Ctlgrs386833480
Max Magnitude0
ClinVar
Risk rs386833480(A,G,T;A,G,T)
Alt rs386833480(A,G,T;A,G,T)
Reference rs386833480(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.107431677G>A
CLNSRC ClinVar
CLNACC RCV000049407.1,


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