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rs193922638

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922638(-;-)
Make rs193922638(-;C)
ReferenceGRCh38 38.1/141
Chromosome9
Position133071278
GeneCEL
is asnp
is mentioned by
dbSNPrs193922638
ebirs193922638
HLIrs193922638
Exacrs193922638
Varsomers193922638
Maprs193922638
PheGenIrs193922638
hapmaprs193922638
1000 genomesrs193922638
hgdprs193922638
ensemblrs193922638
gopubmedrs193922638
geneviewrs193922638
scholarrs193922638
googlers193922638
pharmgkbrs193922638
gwascentralrs193922638
openSNPrs193922638
23andMers193922638
23andMe allrs193922638
SNP Nexus

SNPshotrs193922638
SNPdbers193922638
MSV3drs193922638
GWAS Ctlgrs193922638
Max Magnitude0
ClinVar
Risk rs193922638(;)
Alt rs193922638(;)
Reference rs193922638(C;C)
Significance Probable-Pathogenic
Disease Maturity-onset diabetes of the young
Variation info
Gene CEL
CLNDBN Maturity-onset diabetes of the young, type 8
Reversed 0
HGVS NC_000009.11:g.135946665delC
CLNSRC ClinVar LabCorp
CLNACC RCV000029467.1,


[PMID 16369531] Mutations in the CEL VNTR cause a syndrome of diabetes and pancreatic exocrine dysfunction.