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rs193922297

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922297(C;C)
Make rs193922297(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44150990
GeneGCK
is asnp
is mentioned by
dbSNPrs193922297
ebirs193922297
HLIrs193922297
Exacrs193922297
Varsomers193922297
Maprs193922297
PheGenIrs193922297
hapmaprs193922297
1000 genomesrs193922297
hgdprs193922297
ensemblrs193922297
gopubmedrs193922297
geneviewrs193922297
scholarrs193922297
googlers193922297
pharmgkbrs193922297
gwascentralrs193922297
openSNPrs193922297
23andMers193922297
23andMe allrs193922297
SNP Nexus

SNPshotrs193922297
SNPdbers193922297
MSV3drs193922297
GWAS Ctlgrs193922297
Max Magnitude0
ClinVar
Risk rs193922297(A,C;A,C)
Alt rs193922297(A,C;A,C)
Reference rs193922297(T;T)
Significance Probable-Pathogenic
Disease Maturity-onset diabetes of the young not provided
Variation info
Gene GCK
CLNDBN Maturity-onset diabetes of the young, type 2 not provided
Reversed 1
HGVS NC_000007.13:g.44190589A>G; NC_000007.13:g.44190589A>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029881.1, RCV000117129.1,


[PMID 9472859] Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.


[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 18271687] Screening of mutations and polymorphisms in the glucokinase gene in Czech diabetic and healthy control populations.