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rs386833463

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833463(C;C)
Make rs386833463(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107776658
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833463
ebirs386833463
HLIrs386833463
Exacrs386833463
Varsomers386833463
Maprs386833463
PheGenIrs386833463
hapmaprs386833463
1000 genomesrs386833463
hgdprs386833463
ensemblrs386833463
gopubmedrs386833463
geneviewrs386833463
scholarrs386833463
googlers386833463
pharmgkbrs386833463
gwascentralrs386833463
openSNPrs386833463
23andMers386833463
23andMe allrs386833463
SNP Nexus

SNPshotrs386833463
SNPdbers386833463
MSV3drs386833463
GWAS Ctlgrs386833463
Max Magnitude0
ClinVar
Risk rs386833463(C;C)
Alt rs386833463(C;C)
Reference rs386833463(G;G)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107417103C>G
CLNSRC ClinVar
CLNACC RCV000049390.1,


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