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rs80356655

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 2 associated with MODY2; maturity onset of diabetes in the young (type 2)
Make rs80356655(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44147830
GeneGCK
is asnp
is mentioned by
dbSNPrs80356655
ebirs80356655
HLIrs80356655
Exacrs80356655
Varsomers80356655
Maprs80356655
PheGenIrs80356655
hapmaprs80356655
1000 genomesrs80356655
hgdprs80356655
ensemblrs80356655
gopubmedrs80356655
geneviewrs80356655
scholarrs80356655
googlers80356655
pharmgkbrs80356655
gwascentralrs80356655
openSNPrs80356655
23andMers80356655
23andMe allrs80356655
SNP Nexus

SNPshotrs80356655
SNPdbers80356655
MSV3drs80356655
GWAS Ctlgrs80356655
Max Magnitude2
OMIM138079
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80356655(T;T)
Alt rs80356655(T;T)
Reference rs80356655(C;C)
Significance Pathogenic
Disease Maturity-onset diabetes of the young Permanent neonatal diabetes mellitus
Variation info
Gene GCK
CLNDBN Maturity-onset diabetes of the young, type 2 Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000007.13:g.44187429G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000020167.4, RCV000030923.28,


[PMID 1502186OA-icon.png] Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.


[PMID 11372010] Neonatal diabetes mellitus due to complete glucokinase deficiency.