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rs193922338

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922338(A;A)
Make rs193922338(A;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44146538
GeneGCK
is asnp
is mentioned by
dbSNPrs193922338
ebirs193922338
HLIrs193922338
Exacrs193922338
Varsomers193922338
Maprs193922338
PheGenIrs193922338
hapmaprs193922338
1000 genomesrs193922338
hgdprs193922338
ensemblrs193922338
gopubmedrs193922338
geneviewrs193922338
scholarrs193922338
googlers193922338
pharmgkbrs193922338
gwascentralrs193922338
openSNPrs193922338
23andMers193922338
23andMe allrs193922338
SNP Nexus

SNPshotrs193922338
SNPdbers193922338
MSV3drs193922338
GWAS Ctlgrs193922338
Max Magnitude0
ClinVar
Risk rs193922338(A;A)
Alt rs193922338(A;A)
Reference rs193922338(T;T)
Significance 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.44186137A>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029929.1,


[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.