Have questions? Visit https://www.reddit.com/r/SNPedia

rs193929375

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193929375(G;T)
Make rs193929375(T;T)
ReferenceGRCh38 38.1/141
Chromosome7
Position44145560
GeneGCK
is asnp
is mentioned by
dbSNPrs193929375
ebirs193929375
HLIrs193929375
Exacrs193929375
Varsomers193929375
Maprs193929375
PheGenIrs193929375
hapmaprs193929375
1000 genomesrs193929375
hgdprs193929375
ensemblrs193929375
gopubmedrs193929375
geneviewrs193929375
scholarrs193929375
googlers193929375
pharmgkbrs193929375
gwascentralrs193929375
openSNPrs193929375
23andMers193929375
23andMe allrs193929375
SNP Nexus

SNPshotrs193929375
SNPdbers193929375
MSV3drs193929375
GWAS Ctlgrs193929375
Max Magnitude0
ClinVar
Risk rs193929375(T;T)
Alt rs193929375(T;T)
Reference rs193929375(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.44185159C>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020166.1,


[PMID 15644838] Permanent neonatal diabetes in an Asian infant.