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rs104894010

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894010(C;C)
Make rs104894010(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44151048
GeneGCK
is asnp
is mentioned by
dbSNPrs104894010
dbSNP (classic)rs104894010
ClinGenrs104894010
ebirs104894010
HLIrs104894010
Exacrs104894010
Gnomadrs104894010
Varsomers104894010
LitVarrs104894010
Maprs104894010
PheGenIrs104894010
Biobankrs104894010
1000 genomesrs104894010
hgdprs104894010
ensemblrs104894010
geneviewrs104894010
scholarrs104894010
googlers104894010
pharmgkbrs104894010
gwascentralrs104894010
openSNPrs104894010
23andMers104894010
SNPshotrs104894010
SNPdbers104894010
MSV3drs104894010
GWAS Ctlgrs104894010
Max Magnitude0
OMIM138079
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894010(C;C)
Alt rs104894010(C;C)
Reference Rs104894010(T;T)
Significance 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.44190647A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000017518.28,