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rs193922329

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922329(C;T)
Make rs193922329(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44153433
GeneGCK
is asnp
is mentioned by
dbSNPrs193922329
ebirs193922329
HLIrs193922329
Exacrs193922329
Varsomers193922329
Maprs193922329
PheGenIrs193922329
hapmaprs193922329
1000 genomesrs193922329
hgdprs193922329
ensemblrs193922329
gopubmedrs193922329
geneviewrs193922329
scholarrs193922329
googlers193922329
pharmgkbrs193922329
gwascentralrs193922329
openSNPrs193922329
23andMers193922329
23andMe allrs193922329
SNP Nexus

SNPshotrs193922329
SNPdbers193922329
MSV3drs193922329
GWAS Ctlgrs193922329
Max Magnitude0
ClinVar
Risk rs193922329(T;T)
Alt rs193922329(T;T)
Reference rs193922329(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.44193032G>A
CLNSRC ClinVar
CLNACC RCV000029919.1,


[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.