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rs121917837

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121917837(A;A)
Make rs121917837(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position69572725
GeneLOC101929021, NEUROG3
is asnp
is mentioned by
dbSNPrs121917837
dbSNP (classic)rs121917837
ClinGenrs121917837
ebirs121917837
HLIrs121917837
Exacrs121917837
Gnomadrs121917837
Varsomers121917837
LitVarrs121917837
Maprs121917837
PheGenIrs121917837
Biobankrs121917837
1000 genomesrs121917837
hgdprs121917837
ensemblrs121917837
geneviewrs121917837
scholarrs121917837
googlers121917837
pharmgkbrs121917837
gwascentralrs121917837
openSNPrs121917837
23andMers121917837
SNPshotrs121917837
SNPdbers121917837
MSV3drs121917837
GWAS Ctlgrs121917837
Max Magnitude0
ClinVar
Risk rs121917837(A;A)
Alt rs121917837(A;A)
Reference Rs121917837(C;C)
Significance Pathogenic
Disease Diarrhea 4
Variation info
Gene NEUROG3
CLNDBN Diarrhea 4, malabsorptive, congenital
Reversed 1
HGVS NC_000010.10:g.71332481G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000005648.2,