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rs386833452

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833452(-;-)
Make rs386833452(-;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107779713
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833452
ClinGenrs386833452
ebirs386833452
HLIrs386833452
Exacrs386833452
Varsomers386833452
Maprs386833452
PheGenIrs386833452
hapmaprs386833452
1000 genomesrs386833452
hgdprs386833452
ensemblrs386833452
gopubmedrs386833452
geneviewrs386833452
scholarrs386833452
googlers386833452
pharmgkbrs386833452
gwascentralrs386833452
openSNPrs386833452
23andMers386833452
23andMe allrs386833452
SNP Nexus

SNPshotrs386833452
SNPdbers386833452
MSV3drs386833452
GWAS Ctlgrs386833452
Max Magnitude0
ClinVar
Risk rs386833452(-;-)
Alt rs386833452(-;-)
Reference Rs386833452(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.107420158delC
CLNSRC ClinVar
CLNACC RCV000049379.1,


[PMID 19861545OA-icon.png] Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.


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