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rs193922278

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922278(A;A)
Make rs193922278(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44145227
GeneGCK
is asnp
is mentioned by
dbSNPrs193922278
ebirs193922278
HLIrs193922278
Exacrs193922278
Varsomers193922278
Maprs193922278
PheGenIrs193922278
hapmaprs193922278
1000 genomesrs193922278
hgdprs193922278
ensemblrs193922278
gopubmedrs193922278
geneviewrs193922278
scholarrs193922278
googlers193922278
pharmgkbrs193922278
gwascentralrs193922278
openSNPrs193922278
23andMers193922278
23andMe allrs193922278
SNP Nexus

SNPshotrs193922278
SNPdbers193922278
MSV3drs193922278
GWAS Ctlgrs193922278
Max Magnitude0
ClinVar
Risk rs193922278(A;A)
Alt rs193922278(A;A)
Reference rs193922278(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.44184826A>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029858.1,


[PMID 16602010] Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents.


[PMID 17204055] Six novel mutations in the GCK gene in MODY patients.


[PMID 20337973] Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.