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rs193922328

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922328(C;C)
Make rs193922328(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position44147745
GeneGCK
is asnp
is mentioned by
dbSNPrs193922328
ebirs193922328
HLIrs193922328
Exacrs193922328
Varsomers193922328
Maprs193922328
PheGenIrs193922328
hapmaprs193922328
1000 genomesrs193922328
hgdprs193922328
ensemblrs193922328
gopubmedrs193922328
geneviewrs193922328
scholarrs193922328
googlers193922328
pharmgkbrs193922328
gwascentralrs193922328
openSNPrs193922328
23andMers193922328
23andMe allrs193922328
SNP Nexus

SNPshotrs193922328
SNPdbers193922328
MSV3drs193922328
GWAS Ctlgrs193922328
Max Magnitude0
ClinVar
Risk rs193922328(C;C)
Alt rs193922328(C;C)
Reference rs193922328(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.44187344C>G
CLNSRC ClinVar LabCorp
CLNACC RCV000029918.1,


[PMID 18248649] Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients.