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rs193922258

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193922258(C;C)
Make rs193922258(C;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position44145731
GeneGCK
is asnp
is mentioned by
dbSNPrs193922258
ebirs193922258
HLIrs193922258
Exacrs193922258
Varsomers193922258
Maprs193922258
PheGenIrs193922258
hapmaprs193922258
1000 genomesrs193922258
hgdprs193922258
ensemblrs193922258
gopubmedrs193922258
geneviewrs193922258
scholarrs193922258
googlers193922258
pharmgkbrs193922258
gwascentralrs193922258
openSNPrs193922258
23andMers193922258
23andMe allrs193922258
SNP Nexus

SNPshotrs193922258
SNPdbers193922258
MSV3drs193922258
GWAS Ctlgrs193922258
Max Magnitude0
ClinVar
Risk rs193922258(C;C)
Alt rs193922258(C;C)
Reference rs193922258(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.44185330C>G
CLNSRC ClinVar
CLNACC RCV000029833.1,


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