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rs386833447

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs386833447(-;-)
Make rs386833447(-;TA)
ReferenceGRCh38 38.1/141
Chromosome7
Position107783064
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833447
ebirs386833447
HLIrs386833447
Exacrs386833447
Varsomers386833447
Maprs386833447
PheGenIrs386833447
hapmaprs386833447
1000 genomesrs386833447
hgdprs386833447
ensemblrs386833447
gopubmedrs386833447
geneviewrs386833447
scholarrs386833447
googlers386833447
pharmgkbrs386833447
gwascentralrs386833447
openSNPrs386833447
23andMers386833447
23andMe allrs386833447
SNP Nexus

SNPshotrs386833447
SNPdbers386833447
MSV3drs386833447
GWAS Ctlgrs386833447
Max Magnitude0
ClinVar
Risk rs386833447(;)
Alt rs386833447(;)
Reference rs386833447(TA;TA)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107423509_107423510delTA
CLNSRC ClinVar
CLNACC RCV000049374.1,


[PMID 21150650] Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea.


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