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rs193922316

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922316(A;A)
Make rs193922316(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position44149780
GeneGCK
is asnp
is mentioned by
dbSNPrs193922316
ebirs193922316
HLIrs193922316
Exacrs193922316
Varsomers193922316
Maprs193922316
PheGenIrs193922316
hapmaprs193922316
1000 genomesrs193922316
hgdprs193922316
ensemblrs193922316
gopubmedrs193922316
geneviewrs193922316
scholarrs193922316
googlers193922316
pharmgkbrs193922316
gwascentralrs193922316
openSNPrs193922316
23andMers193922316
23andMe allrs193922316
SNP Nexus

SNPshotrs193922316
SNPdbers193922316
MSV3drs193922316
GWAS Ctlgrs193922316
Max Magnitude0
ClinVar
Risk rs193922316(A;A)
Alt rs193922316(A;A)
Reference rs193922316(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.44189379C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029903.1,


[PMID 15102714] A series of maturity onset diabetes of the young, type 2 (MODY2) mouse models generated by a large-scale ENU mutagenesis program.


[PMID 19790256] Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.