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rs193929374

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs193929374(C;T)
Make rs193929374(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44145617
GeneGCK
is asnp
is mentioned by
dbSNPrs193929374
ebirs193929374
HLIrs193929374
Exacrs193929374
Varsomers193929374
Maprs193929374
PheGenIrs193929374
hapmaprs193929374
1000 genomesrs193929374
hgdprs193929374
ensemblrs193929374
gopubmedrs193929374
geneviewrs193929374
scholarrs193929374
googlers193929374
pharmgkbrs193929374
gwascentralrs193929374
openSNPrs193929374
23andMers193929374
23andMe allrs193929374
SNP Nexus

SNPshotrs193929374
SNPdbers193929374
MSV3drs193929374
GWAS Ctlgrs193929374
Max Magnitude0
ClinVar
Risk rs193929374(T;T)
Alt rs193929374(T;T)
Reference rs193929374(C;C)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene GCK
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000007.13:g.44185216G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020165.1,


[PMID 14578306] Permanent neonatal diabetes caused by glucokinase deficiency: inborn error of the glucose-insulin signaling pathway.