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rs193929336

From SNPedia

Merged intors80356611
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193929336(C;C)
Make rs193929336(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387943
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs193929336
ebirs193929336
HLIrs193929336
Exacrs193929336
Varsomers193929336
Maprs193929336
PheGenIrs193929336
hapmaprs193929336
1000 genomesrs193929336
hgdprs193929336
ensemblrs193929336
gopubmedrs193929336
geneviewrs193929336
scholarrs193929336
googlers193929336
pharmgkbrs193929336
gwascentralrs193929336
openSNPrs193929336
23andMers193929336
23andMe allrs193929336
SNP Nexus

SNPshotrs193929336
SNPdbers193929336
MSV3drs193929336
GWAS Ctlgrs193929336
StatusMerged into rs80356611
Max Magnitude0
ClinVar
Risk rs193929336(C;C)
Alt rs193929336(C;C)
Reference Rs193929336(G;G)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17409490C>G
CLNSRC OMIM Allelic Variant GeneReviews
CLNACC SCV000029423.1, SCV000040724.1,


[PMID 15580558] KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.