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rs80356654

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 2 associated with MODY2; maturity onset of diabetes in the young (type 2)
(T;T) 0 common in clinvar


Make rs80356654(A;A)
ReferenceGRCh38 38.1/141
Chromosome7
Position44149810
GeneGCK
is asnp
is mentioned by
dbSNPrs80356654
ebirs80356654
HLIrs80356654
Exacrs80356654
Varsomers80356654
Maprs80356654
PheGenIrs80356654
hapmaprs80356654
1000 genomesrs80356654
hgdprs80356654
ensemblrs80356654
gopubmedrs80356654
geneviewrs80356654
scholarrs80356654
googlers80356654
pharmgkbrs80356654
gwascentralrs80356654
openSNPrs80356654
23andMers80356654
23andMe allrs80356654
SNP Nexus

SNPshotrs80356654
SNPdbers80356654
MSV3drs80356654
GWAS Ctlgrs80356654
Max Magnitude2
OMIM138079
Desc
Variant0010
Relatedalso
ClinVar
Risk rs80356654(A;A)
Alt rs80356654(A;A)
Reference rs80356654(T;T)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus Maturity-onset diabetes of the young
Variation info
Gene GCK
CLNDBN Permanent neonatal diabetes mellitus Maturity-onset diabetes of the young, type 2
Reversed 1
HGVS NC_000007.13:g.44189409A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000017521.29, RCV000190348.2,


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