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rs193922253

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
Make rs193922253(-;AA)
Make rs193922253(AA;AA)
ReferenceGRCh38 38.1/141
Chromosome7
Position44146478
GeneGCK, LOC105375258
is asnp
is mentioned by
dbSNPrs193922253
dbSNP (classic)rs193922253
ClinGenrs193922253
ebirs193922253
HLIrs193922253
Exacrs193922253
Gnomadrs193922253
Varsomers193922253
LitVarrs193922253
Maprs193922253
PheGenIrs193922253
Biobankrs193922253
1000 genomesrs193922253
hgdprs193922253
ensemblrs193922253
geneviewrs193922253
scholarrs193922253
googlers193922253
pharmgkbrs193922253
gwascentralrs193922253
openSNPrs193922253
23andMers193922253
SNPshotrs193922253
SNPdbers193922253
MSV3drs193922253
GWAS Ctlgrs193922253
Max Magnitude0
ClinVar
Risk rs193922253(AA;AA)
Alt rs193922253(AA;AA)
Reference Rs193922253(-;-)
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.44186077_44186078insTT
CLNSRC ClinVar LabCorp
CLNACC RCV000029828.1,