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rs193929348

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs193929348(A;G)
Make rs193929348(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387548
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs193929348
ebirs193929348
HLIrs193929348
Exacrs193929348
Varsomers193929348
Maprs193929348
PheGenIrs193929348
hapmaprs193929348
1000 genomesrs193929348
hgdprs193929348
ensemblrs193929348
gopubmedrs193929348
geneviewrs193929348
scholarrs193929348
googlers193929348
pharmgkbrs193929348
gwascentralrs193929348
openSNPrs193929348
23andMers193929348
23andMe allrs193929348
SNP Nexus

SNPshotrs193929348
SNPdbers193929348
MSV3drs193929348
GWAS Ctlgrs193929348
Max Magnitude0
ClinVar
Risk rs193929348(G;G)
Alt rs193929348(G;G)
Reference rs193929348(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.17409095T>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020354.1,