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rs193922307

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193922307(C;T)
Make rs193922307(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44149985
GeneGCK
is asnp
is mentioned by
dbSNPrs193922307
ebirs193922307
HLIrs193922307
Exacrs193922307
Varsomers193922307
Maprs193922307
PheGenIrs193922307
hapmaprs193922307
1000 genomesrs193922307
hgdprs193922307
ensemblrs193922307
gopubmedrs193922307
geneviewrs193922307
scholarrs193922307
googlers193922307
pharmgkbrs193922307
gwascentralrs193922307
openSNPrs193922307
23andMers193922307
23andMe allrs193922307
SNP Nexus

SNPshotrs193922307
SNPdbers193922307
MSV3drs193922307
GWAS Ctlgrs193922307
Max Magnitude0
ClinVar
Risk rs193922307(T;T)
Alt rs193922307(T;T)
Reference rs193922307(C;C)
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.44189584G>A
CLNSRC ClinVar LabCorp
CLNACC RCV000029892.1,


[PMID 16965331] Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.