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rs193929355

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193929355(A;A)
Make rs193929355(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387128
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs193929355
dbSNP (classic)rs193929355
ClinGenrs193929355
ebirs193929355
HLIrs193929355
Exacrs193929355
Gnomadrs193929355
Varsomers193929355
LitVarrs193929355
Maprs193929355
PheGenIrs193929355
Biobankrs193929355
1000 genomesrs193929355
hgdprs193929355
ensemblrs193929355
geneviewrs193929355
scholarrs193929355
googlers193929355
pharmgkbrs193929355
gwascentralrs193929355
openSNPrs193929355
23andMers193929355
SNPshotrs193929355
SNPdbers193929355
MSV3drs193929355
GWAS Ctlgrs193929355
Max Magnitude0
ClinVar
Risk rs193929355(A;A)
Alt rs193929355(A;A)
Reference Rs193929355(G;G)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus Diabetes mellitus
Variation info
Gene KCNJ11
CLNDBN Permanent neonatal diabetes mellitus Diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17408675C>T
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020360.1, RCV000146122.1,