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rs386833470

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833470(-;-)
Make rs386833470(-;TCA)
Make rs386833470(TCA;TCA)
ReferenceGRCh38 38.1/141
Chromosome7
Position107772089
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833470
ebirs386833470
HLIrs386833470
Exacrs386833470
Varsomers386833470
Maprs386833470
PheGenIrs386833470
hapmaprs386833470
1000 genomesrs386833470
hgdprs386833470
ensemblrs386833470
gopubmedrs386833470
geneviewrs386833470
scholarrs386833470
googlers386833470
pharmgkbrs386833470
gwascentralrs386833470
openSNPrs386833470
23andMers386833470
23andMe allrs386833470
SNP Nexus

SNPshotrs386833470
SNPdbers386833470
MSV3drs386833470
GWAS Ctlgrs386833470
Max Magnitude0
ClinVar
Risk rs386833470(TCA;TCA)
Alt rs386833470(TCA;TCA)
Reference rs386833470(;)
Significance Other
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107412535_107412537dupTGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000049397.4,


[PMID 9718329OA-icon.png] Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.


[PMID 21332001] A Turkish case of congenital chloride diarrhea with SLC26A3 gene (c.2025_2026insATC) mutation: diagnostic pitfalls.