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rs386833485

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833485(G;T)
Make rs386833485(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position107789689
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833485
ebirs386833485
HLIrs386833485
Exacrs386833485
Varsomers386833485
Maprs386833485
PheGenIrs386833485
hapmaprs386833485
1000 genomesrs386833485
hgdprs386833485
ensemblrs386833485
gopubmedrs386833485
geneviewrs386833485
scholarrs386833485
googlers386833485
pharmgkbrs386833485
gwascentralrs386833485
openSNPrs386833485
23andMers386833485
23andMe allrs386833485
SNP Nexus

SNPshotrs386833485
SNPdbers386833485
MSV3drs386833485
GWAS Ctlgrs386833485
Max Magnitude0
ClinVar
Risk rs386833485(A,T;A,T)
Alt rs386833485(A,T;A,T)
Reference rs386833485(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.107430134C>A
CLNSRC ClinVar
CLNACC RCV000049413.1,


[PMID 9718329OA-icon.png] Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.