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rs386833455

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833455(A;A)
Make rs386833455(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position107778282
GeneSLC26A3
is asnp
is mentioned by
dbSNPrs386833455
ebirs386833455
HLIrs386833455
Exacrs386833455
Varsomers386833455
Maprs386833455
PheGenIrs386833455
hapmaprs386833455
1000 genomesrs386833455
hgdprs386833455
ensemblrs386833455
gopubmedrs386833455
geneviewrs386833455
scholarrs386833455
googlers386833455
pharmgkbrs386833455
gwascentralrs386833455
openSNPrs386833455
23andMers386833455
23andMe allrs386833455
SNP Nexus

SNPshotrs386833455
SNPdbers386833455
MSV3drs386833455
GWAS Ctlgrs386833455
Max Magnitude0
ClinVar
Risk rs386833455(A;A)
Alt rs386833455(A;A)
Reference rs386833455(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.107418727C>T
CLNSRC ClinVar
CLNACC RCV000049382.1,


[PMID 11524734] Identification of seven novel mutations including the first two genomic rearrangements in SLC26A3 mutated in congenital chloride diarrhea.