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rs144723656

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs144723656(A;A)
Make rs144723656(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position44149794
GeneGCK
is asnp
is mentioned by
dbSNPrs144723656
ebirs144723656
HLIrs144723656
Exacrs144723656
Varsomers144723656
Maprs144723656
PheGenIrs144723656
hapmaprs144723656
1000 genomesrs144723656
hgdprs144723656
ensemblrs144723656
gopubmedrs144723656
geneviewrs144723656
scholarrs144723656
googlers144723656
pharmgkbrs144723656
gwascentralrs144723656
openSNPrs144723656
23andMers144723656
23andMe allrs144723656
SNP Nexus

SNPshotrs144723656
SNPdbers144723656
MSV3drs144723656
GWAS Ctlgrs144723656
GMAF0.007346
Max Magnitude0
ClinVar
Risk rs144723656(A,C;A,C)
Alt rs144723656(A,C;A,C)
Reference rs144723656(G;G)
Significance Pathogenic
Disease Maturity-onset diabetes of the young
Variation info
Gene GCK
CLNDBN Maturity-onset diabetes of the young, type 2
Reversed 0
HGVS NC_000007.13:g.44189393G>C
CLNSRC ClinVar
CLNACC RCV000029901.1,


[PMID 10753050] A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.

[PMID 16731834] From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.

[PMID 18399931] Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.