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rs193922336

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922336(C;T)
Make rs193922336(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44146575
GeneGCK, LOC105375258
is asnp
is mentioned by
dbSNPrs193922336
dbSNP (classic)rs193922336
ClinGenrs193922336
ebirs193922336
HLIrs193922336
Exacrs193922336
Gnomadrs193922336
Varsomers193922336
LitVarrs193922336
Maprs193922336
PheGenIrs193922336
Biobankrs193922336
1000 genomesrs193922336
hgdprs193922336
ensemblrs193922336
geneviewrs193922336
scholarrs193922336
googlers193922336
pharmgkbrs193922336
gwascentralrs193922336
openSNPrs193922336
23andMers193922336
SNPshotrs193922336
SNPdbers193922336
MSV3drs193922336
GWAS Ctlgrs193922336
Max Magnitude0
ClinVar
Risk rs193922336(T;T)
Alt rs193922336(T;T)
Reference Rs193922336(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.44186174G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029927.1,


[PMID 16444761] Glucokinase mutations in young children with hyperglycemia.


[PMID 19309449OA-icon.png] Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus.