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rs386833487

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833487(G;G)
Make rs386833487(G;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107789649
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833487
ebirs386833487
HLIrs386833487
Exacrs386833487
Varsomers386833487
Maprs386833487
PheGenIrs386833487
hapmaprs386833487
1000 genomesrs386833487
hgdprs386833487
ensemblrs386833487
gopubmedrs386833487
geneviewrs386833487
scholarrs386833487
googlers386833487
pharmgkbrs386833487
gwascentralrs386833487
openSNPrs386833487
23andMers386833487
23andMe allrs386833487
SNP Nexus

SNPshotrs386833487
SNPdbers386833487
MSV3drs386833487
GWAS Ctlgrs386833487
Max Magnitude0
ClinVar
Risk rs386833487(G;G)
Alt rs386833487(G;G)
Reference rs386833487(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.107430094A>C
CLNSRC ClinVar
CLNACC RCV000049415.1,


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