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rs193929333

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193929333(G;G)
Make rs193929333(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387989
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs193929333
ebirs193929333
HLIrs193929333
Exacrs193929333
Varsomers193929333
Maprs193929333
PheGenIrs193929333
hapmaprs193929333
1000 genomesrs193929333
hgdprs193929333
ensemblrs193929333
gopubmedrs193929333
geneviewrs193929333
scholarrs193929333
googlers193929333
pharmgkbrs193929333
gwascentralrs193929333
openSNPrs193929333
23andMers193929333
23andMe allrs193929333
SNP Nexus

SNPshotrs193929333
SNPdbers193929333
MSV3drs193929333
GWAS Ctlgrs193929333
Max Magnitude0
ClinVar
Risk rs193929333(C,G;C,G)
Alt rs193929333(C,G;C,G)
Reference rs193929333(T;T)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene KCNJ11
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17409536A>C; NC_000011.9:g.17409536A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020346.1, RCV000020345.1,