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rs193922264

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922264(A;A)
Make rs193922264(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position44145620
GeneGCK
is asnp
is mentioned by
dbSNPrs193922264
ebirs193922264
HLIrs193922264
Exacrs193922264
Varsomers193922264
Maprs193922264
PheGenIrs193922264
hapmaprs193922264
1000 genomesrs193922264
hgdprs193922264
ensemblrs193922264
gopubmedrs193922264
geneviewrs193922264
scholarrs193922264
googlers193922264
pharmgkbrs193922264
gwascentralrs193922264
openSNPrs193922264
23andMers193922264
23andMe allrs193922264
SNP Nexus

SNPshotrs193922264
SNPdbers193922264
MSV3drs193922264
GWAS Ctlgrs193922264
Max Magnitude0
ClinVar
Risk rs193922264(A;A)
Alt rs193922264(A;A)
Reference rs193922264(G;G)
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.44185219C>T
CLNSRC ClinVar LabCorp
CLNACC RCV000029839.1,


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