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rs386833448

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833448(C;T)
Make rs386833448(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107782802
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833448
ebirs386833448
HLIrs386833448
Exacrs386833448
Varsomers386833448
Maprs386833448
PheGenIrs386833448
hapmaprs386833448
1000 genomesrs386833448
hgdprs386833448
ensemblrs386833448
gopubmedrs386833448
geneviewrs386833448
scholarrs386833448
googlers386833448
pharmgkbrs386833448
gwascentralrs386833448
openSNPrs386833448
23andMers386833448
23andMe allrs386833448
SNP Nexus

SNPshotrs386833448
SNPdbers386833448
MSV3drs386833448
GWAS Ctlgrs386833448
Max Magnitude0
ClinVar
Risk rs386833448(T;T)
Alt rs386833448(T;T)
Reference rs386833448(C;C)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107423247G>A
CLNSRC ClinVar
CLNACC RCV000049375.1,


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