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rs193922283

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922283(C;T)
Make rs193922283(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44145176
GeneGCK
is asnp
is mentioned by
dbSNPrs193922283
ebirs193922283
HLIrs193922283
Exacrs193922283
Varsomers193922283
Maprs193922283
PheGenIrs193922283
hapmaprs193922283
1000 genomesrs193922283
hgdprs193922283
ensemblrs193922283
gopubmedrs193922283
geneviewrs193922283
scholarrs193922283
googlers193922283
pharmgkbrs193922283
gwascentralrs193922283
openSNPrs193922283
23andMers193922283
23andMe allrs193922283
SNP Nexus

SNPshotrs193922283
SNPdbers193922283
MSV3drs193922283
GWAS Ctlgrs193922283
Max Magnitude0
ClinVar
Risk rs193922283(T;T)
Alt rs193922283(T;T)
Reference rs193922283(C;C)
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.44184775G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029863.1,


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


[PMID 14517956] Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY).


[PMID 16731834] From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.


[PMID 18382660OA-icon.png] Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.


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