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rs193929352

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs193929352(C;C)
Make rs193929352(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387337
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs193929352
ebirs193929352
HLIrs193929352
Exacrs193929352
Varsomers193929352
Maprs193929352
PheGenIrs193929352
hapmaprs193929352
1000 genomesrs193929352
hgdprs193929352
ensemblrs193929352
gopubmedrs193929352
geneviewrs193929352
scholarrs193929352
googlers193929352
pharmgkbrs193929352
gwascentralrs193929352
openSNPrs193929352
23andMers193929352
23andMe allrs193929352
SNP Nexus

SNPshotrs193929352
SNPdbers193929352
MSV3drs193929352
GWAS Ctlgrs193929352
Max Magnitude0
ClinVar
Risk rs193929352(C;C)
Alt rs193929352(C;C)
Reference rs193929352(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.17408884A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020357.1,