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rs193929337

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193929337(A;G)
Make rs193929337(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387937
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs193929337
dbSNP (classic)rs193929337
ClinGenrs193929337
ebirs193929337
HLIrs193929337
Exacrs193929337
Gnomadrs193929337
Varsomers193929337
LitVarrs193929337
Maprs193929337
PheGenIrs193929337
Biobankrs193929337
1000 genomesrs193929337
hgdprs193929337
ensemblrs193929337
geneviewrs193929337
scholarrs193929337
googlers193929337
pharmgkbrs193929337
gwascentralrs193929337
openSNPrs193929337
23andMers193929337
SNPshotrs193929337
SNPdbers193929337
MSV3drs193929337
GWAS Ctlgrs193929337
Max Magnitude0
ClinVar
Risk rs193929337(G;G)
Alt rs193929337(G;G)
Reference Rs193929337(A;A)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene KCNJ11
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17409484T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020348.1,