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rs386833454

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833454(A;T)
Make rs386833454(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107779672
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833454
ebirs386833454
HLIrs386833454
Exacrs386833454
Varsomers386833454
Maprs386833454
PheGenIrs386833454
hapmaprs386833454
1000 genomesrs386833454
hgdprs386833454
ensemblrs386833454
gopubmedrs386833454
geneviewrs386833454
scholarrs386833454
googlers386833454
pharmgkbrs386833454
gwascentralrs386833454
openSNPrs386833454
23andMers386833454
23andMe allrs386833454
SNP Nexus

SNPshotrs386833454
SNPdbers386833454
MSV3drs386833454
GWAS Ctlgrs386833454
Max Magnitude0
ClinVar
Risk rs386833454(T;T)
Alt rs386833454(T;T)
Reference rs386833454(A;A)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107420117T>A
CLNSRC ClinVar
CLNACC RCV000049381.1,


[PMID 11524734] Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.