Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833453

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833453(C;T)
Make rs386833453(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107779688
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833453
ebirs386833453
HLIrs386833453
Exacrs386833453
Varsomers386833453
Maprs386833453
PheGenIrs386833453
hapmaprs386833453
1000 genomesrs386833453
hgdprs386833453
ensemblrs386833453
gopubmedrs386833453
geneviewrs386833453
scholarrs386833453
googlers386833453
pharmgkbrs386833453
gwascentralrs386833453
openSNPrs386833453
23andMers386833453
23andMe allrs386833453
SNP Nexus

SNPshotrs386833453
SNPdbers386833453
MSV3drs386833453
GWAS Ctlgrs386833453
Max Magnitude0
ClinVar
Risk rs386833453(T;T)
Alt rs386833453(T;T)
Reference rs386833453(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.107420133G>A
CLNSRC ClinVar
CLNACC RCV000049380.1,


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