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rs193922323

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922323(C;C)
Make rs193922323(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44147809
GeneGCK
is asnp
is mentioned by
dbSNPrs193922323
ebirs193922323
HLIrs193922323
Exacrs193922323
Varsomers193922323
Maprs193922323
PheGenIrs193922323
hapmaprs193922323
1000 genomesrs193922323
hgdprs193922323
ensemblrs193922323
gopubmedrs193922323
geneviewrs193922323
scholarrs193922323
googlers193922323
pharmgkbrs193922323
gwascentralrs193922323
openSNPrs193922323
23andMers193922323
23andMe allrs193922323
SNP Nexus

SNPshotrs193922323
SNPdbers193922323
MSV3drs193922323
GWAS Ctlgrs193922323
Max Magnitude0
ClinVar
Risk rs193922323(C;C)
Alt rs193922323(C;C)
Reference rs193922323(T;T)
Significance Probable-Pathogenic
Disease Maturity-onset diabetes of the young
Variation info
Gene GCK
CLNDBN Maturity-onset diabetes of the young, type 2
Reversed 1
HGVS NC_000007.13:g.44187408A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029911.1,


[PMID 14517946] Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.


[PMID 18399931] Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.


[PMID 19790256] Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.