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rs386833488

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833488(C;C)
Make rs386833488(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107789643
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833488
ebirs386833488
HLIrs386833488
Exacrs386833488
Varsomers386833488
Maprs386833488
PheGenIrs386833488
hapmaprs386833488
1000 genomesrs386833488
hgdprs386833488
ensemblrs386833488
gopubmedrs386833488
geneviewrs386833488
scholarrs386833488
googlers386833488
pharmgkbrs386833488
gwascentralrs386833488
openSNPrs386833488
23andMers386833488
23andMe allrs386833488
SNP Nexus

SNPshotrs386833488
SNPdbers386833488
MSV3drs386833488
GWAS Ctlgrs386833488
Max Magnitude0
ClinVar
Risk rs386833488(C;C)
Alt rs386833488(C;C)
Reference rs386833488(T;T)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107430088A>G
CLNSRC ClinVar
CLNACC RCV000049416.1,


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