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rs193929376

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193929376(G;G)
Make rs193929376(G;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44146461
GeneGCK
is asnp
is mentioned by
dbSNPrs193929376
ebirs193929376
HLIrs193929376
Exacrs193929376
Varsomers193929376
Maprs193929376
PheGenIrs193929376
hapmaprs193929376
1000 genomesrs193929376
hgdprs193929376
ensemblrs193929376
gopubmedrs193929376
geneviewrs193929376
scholarrs193929376
googlers193929376
pharmgkbrs193929376
gwascentralrs193929376
openSNPrs193929376
23andMers193929376
23andMe allrs193929376
SNP Nexus

SNPshotrs193929376
SNPdbers193929376
MSV3drs193929376
GWAS Ctlgrs193929376
Max Magnitude0
ClinVar
Risk rs193929376(A,G;A,G)
Alt rs193929376(A,G;A,G)
Reference rs193929376(T;T)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene GCK
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000007.13:g.44186060A>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020164.2,


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