Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833483

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833483(A;A)
Make rs386833483(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107791210
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833483
ebirs386833483
HLIrs386833483
Exacrs386833483
Varsomers386833483
Maprs386833483
PheGenIrs386833483
hapmaprs386833483
1000 genomesrs386833483
hgdprs386833483
ensemblrs386833483
gopubmedrs386833483
geneviewrs386833483
scholarrs386833483
googlers386833483
pharmgkbrs386833483
gwascentralrs386833483
openSNPrs386833483
23andMers386833483
23andMe allrs386833483
SNP Nexus

SNPshotrs386833483
SNPdbers386833483
MSV3drs386833483
GWAS Ctlgrs386833483
Max Magnitude0
ClinVar
Risk rs386833483(A;A)
Alt rs386833483(A;A)
Reference rs386833483(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.107431655C>T
CLNSRC ClinVar
CLNACC RCV000049411.1,


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