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

rs386833464

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TAT;TAT) 0 common in clinvar
Make rs386833464(-;-)
Make rs386833464(-;TAT)
ReferenceGRCh38 38.1/141
Chromosome7
Position107776640
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833464
ebirs386833464
HLIrs386833464
Exacrs386833464
Varsomers386833464
Maprs386833464
PheGenIrs386833464
hapmaprs386833464
1000 genomesrs386833464
hgdprs386833464
ensemblrs386833464
gopubmedrs386833464
geneviewrs386833464
scholarrs386833464
googlers386833464
pharmgkbrs386833464
gwascentralrs386833464
openSNPrs386833464
23andMers386833464
23andMe allrs386833464
SNP Nexus

SNPshotrs386833464
SNPdbers386833464
MSV3drs386833464
GWAS Ctlgrs386833464
Max Magnitude0
ClinVar
Risk rs386833464(;)
Alt rs386833464(;)
Reference rs386833464(TAT;TAT)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107417085_107417087delATA
CLNSRC ClinVar
CLNACC RCV000049391.1,


[PMID 9554749] Clustering of private mutations in the congenital chloride diarrhea/down-regulated in adenoma gene.