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rs386833462

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833462(A;G)
Make rs386833462(G;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107776662
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833462
ebirs386833462
HLIrs386833462
Exacrs386833462
Varsomers386833462
Maprs386833462
PheGenIrs386833462
hapmaprs386833462
1000 genomesrs386833462
hgdprs386833462
ensemblrs386833462
gopubmedrs386833462
geneviewrs386833462
scholarrs386833462
googlers386833462
pharmgkbrs386833462
gwascentralrs386833462
openSNPrs386833462
23andMers386833462
23andMe allrs386833462
SNP Nexus

SNPshotrs386833462
SNPdbers386833462
MSV3drs386833462
GWAS Ctlgrs386833462
Max Magnitude0
ClinVar
Risk rs386833462(G;G)
Alt rs386833462(G;G)
Reference rs386833462(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.107417107T>C
CLNSRC ClinVar
CLNACC RCV000049389.1,


[PMID 19861545OA-icon.png] Genetic diagnosis by whole exome capture and massively parallel DNA sequencing.