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rs386833450

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs386833450(-;-)
Make rs386833450(-;TT)
ReferenceGRCh38 38.1/141
Chromosome7
Position107779732
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833450
ebirs386833450
HLIrs386833450
Exacrs386833450
Varsomers386833450
Maprs386833450
PheGenIrs386833450
hapmaprs386833450
1000 genomesrs386833450
hgdprs386833450
ensemblrs386833450
gopubmedrs386833450
geneviewrs386833450
scholarrs386833450
googlers386833450
pharmgkbrs386833450
gwascentralrs386833450
openSNPrs386833450
23andMers386833450
23andMe allrs386833450
SNP Nexus

SNPshotrs386833450
SNPdbers386833450
MSV3drs386833450
GWAS Ctlgrs386833450
Max Magnitude0
ClinVar
Risk rs386833450(;)
Alt rs386833450(;)
Reference rs386833450(TT;TT)
Significance Probable-Pathogenic
Disease Congenital secretory diarrhea
Variation info
Gene SLC26A3
CLNDBN Congenital secretory diarrhea, chloride type
Reversed 1
HGVS NC_000007.13:g.107420177_107420178delAA
CLNSRC ClinVar
CLNACC RCV000049377.1,


[PMID 12442266] SLC26A3 mutations in congenital chloride diarrhea.