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rs193922311

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193922311(C;C)
Make rs193922311(C;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44149834
GeneGCK
is asnp
is mentioned by
dbSNPrs193922311
ebirs193922311
HLIrs193922311
Exacrs193922311
Varsomers193922311
Maprs193922311
PheGenIrs193922311
hapmaprs193922311
1000 genomesrs193922311
hgdprs193922311
ensemblrs193922311
gopubmedrs193922311
geneviewrs193922311
scholarrs193922311
googlers193922311
pharmgkbrs193922311
gwascentralrs193922311
openSNPrs193922311
23andMers193922311
23andMe allrs193922311
SNP Nexus

SNPshotrs193922311
SNPdbers193922311
MSV3drs193922311
GWAS Ctlgrs193922311
Max Magnitude0
ClinVar
Risk rs193922311(C;C)
Alt rs193922311(C;C)
Reference rs193922311(T;T)
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.44189433A>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029896.1,


[PMID 17573900] Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.


[PMID 17937063] Four novel mutations, including the first gross deletion in TCF1, identified in HNF-4alpha, GCK and TCF1 in patients with MODY in Israel.