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rs193922252

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CG;CG) 0 common in clinvar
Make rs193922252(AA;AA)
Make rs193922252(AA;CG)
ReferenceGRCh38 38.1/141
Chromosome7
Position44146479
GeneGCK, LOC105375258
is asnp
is mentioned by
dbSNPrs193922252
dbSNP (classic)rs193922252
ClinGenrs193922252
ebirs193922252
HLIrs193922252
Exacrs193922252
Gnomadrs193922252
Varsomers193922252
LitVarrs193922252
Maprs193922252
PheGenIrs193922252
Biobankrs193922252
1000 genomesrs193922252
hgdprs193922252
ensemblrs193922252
geneviewrs193922252
scholarrs193922252
googlers193922252
pharmgkbrs193922252
gwascentralrs193922252
openSNPrs193922252
23andMers193922252
SNPshotrs193922252
SNPdbers193922252
MSV3drs193922252
GWAS Ctlgrs193922252
Max Magnitude0
ClinVar
Risk rs193922252(AA;AA)
Alt rs193922252(AA;AA)
Reference Rs193922252(CG;CG)
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.44186078_44186079delCGinsTT
CLNSRC ClinVar
CLNACC RCV000029827.1,