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rs386833475

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833475(A;G)
Make rs386833475(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107767763
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833475
ebirs386833475
HLIrs386833475
Exacrs386833475
Varsomers386833475
Maprs386833475
PheGenIrs386833475
hapmaprs386833475
1000 genomesrs386833475
hgdprs386833475
ensemblrs386833475
gopubmedrs386833475
geneviewrs386833475
scholarrs386833475
googlers386833475
pharmgkbrs386833475
gwascentralrs386833475
openSNPrs386833475
23andMers386833475
23andMe allrs386833475
SNP Nexus

SNPshotrs386833475
SNPdbers386833475
MSV3drs386833475
GWAS Ctlgrs386833475
Max Magnitude0
ClinVar
Risk rs386833475(G;G)
Alt rs386833475(G;G)
Reference rs386833475(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.107408208T>C
CLNSRC ClinVar
CLNACC RCV000049402.1,


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