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rs193922317

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922317(A;A)
Make rs193922317(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position44149778
GeneGCK
is asnp
is mentioned by
dbSNPrs193922317
ebirs193922317
HLIrs193922317
Exacrs193922317
Varsomers193922317
Maprs193922317
PheGenIrs193922317
hapmaprs193922317
1000 genomesrs193922317
hgdprs193922317
ensemblrs193922317
gopubmedrs193922317
geneviewrs193922317
scholarrs193922317
googlers193922317
pharmgkbrs193922317
gwascentralrs193922317
openSNPrs193922317
23andMers193922317
23andMe allrs193922317
SNP Nexus

SNPshotrs193922317
SNPdbers193922317
MSV3drs193922317
GWAS Ctlgrs193922317
Max Magnitude0
ClinVar
Risk rs193922317(A;A)
Alt rs193922317(A;A)
Reference rs193922317(G;G)
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.44189377C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029904.1,


[PMID 10694920] Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online.

[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.