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rs193922306

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922306(C;C)
Make rs193922306(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44150006
GeneGCK
is asnp
is mentioned by
dbSNPrs193922306
ebirs193922306
HLIrs193922306
Exacrs193922306
Varsomers193922306
Maprs193922306
PheGenIrs193922306
hapmaprs193922306
1000 genomesrs193922306
hgdprs193922306
ensemblrs193922306
gopubmedrs193922306
geneviewrs193922306
scholarrs193922306
googlers193922306
pharmgkbrs193922306
gwascentralrs193922306
openSNPrs193922306
23andMers193922306
23andMe allrs193922306
SNP Nexus

SNPshotrs193922306
SNPdbers193922306
MSV3drs193922306
GWAS Ctlgrs193922306
Max Magnitude0
ClinVar
Risk rs193922306(C;C)
Alt rs193922306(C;C)
Reference rs193922306(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.44189605A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029891.1,


[PMID 11508276] High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetes (SIEDP).


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