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rs193929373

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193929373(A;A)
Make rs193929373(A;G)
ReferenceGRCh38 38.1/141
Chromosome7
Position44147723
GeneGCK
is asnp
is mentioned by
dbSNPrs193929373
ebirs193929373
HLIrs193929373
Exacrs193929373
Varsomers193929373
Maprs193929373
PheGenIrs193929373
hapmaprs193929373
1000 genomesrs193929373
hgdprs193929373
ensemblrs193929373
gopubmedrs193929373
geneviewrs193929373
scholarrs193929373
googlers193929373
pharmgkbrs193929373
gwascentralrs193929373
openSNPrs193929373
23andMers193929373
23andMe allrs193929373
SNP Nexus

SNPshotrs193929373
SNPdbers193929373
MSV3drs193929373
GWAS Ctlgrs193929373
Max Magnitude0
ClinVar
Risk rs193929373(A;A)
Alt rs193929373(A;A)
Reference rs193929373(G;G)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene GCK
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000007.13:g.44187322C>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020168.1,


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