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rs193922331

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Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922331(C;C)
Make rs193922331(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44147726
GeneGCK
is asnp
is mentioned by
dbSNPrs193922331
ebirs193922331
HLIrs193922331
Exacrs193922331
Varsomers193922331
Maprs193922331
PheGenIrs193922331
hapmaprs193922331
1000 genomesrs193922331
hgdprs193922331
ensemblrs193922331
gopubmedrs193922331
geneviewrs193922331
scholarrs193922331
googlers193922331
pharmgkbrs193922331
gwascentralrs193922331
openSNPrs193922331
23andMers193922331
23andMe allrs193922331
SNP Nexus

SNPshotrs193922331
SNPdbers193922331
MSV3drs193922331
GWAS Ctlgrs193922331
Max Magnitude0
ClinVar
Risk rs193922331(C;C)
Alt rs193922331(C;C)
Reference rs193922331(T;T)
Significance Probable-Pathogenic
Disease Maturity-onset diabetes of the young Diabetes mellitus
Variation info
Gene GCK
CLNDBN Maturity-onset diabetes of the young, type 2 Diabetes mellitus, gestational
Reversed 1
HGVS NC_000007.13:g.44187325A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029921.1, RCV000117135.1,


[PMID 12442280] GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).


[PMID 14517946] Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.


[PMID 17186219] Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity.


[PMID 17389332] Cell biology assessment of glucokinase mutations V62M and G72R in pancreatic beta-cells: evidence for cellular instability of catalytic activity.