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rs193929339

From SNPedia

Merged intors80356613
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193929339(A;A)
Make rs193929339(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387935
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs193929339
ebirs193929339
HLIrs193929339
Exacrs193929339
Varsomers193929339
Maprs193929339
PheGenIrs193929339
hapmaprs193929339
1000 genomesrs193929339
hgdprs193929339
ensemblrs193929339
gopubmedrs193929339
geneviewrs193929339
scholarrs193929339
googlers193929339
pharmgkbrs193929339
gwascentralrs193929339
openSNPrs193929339
23andMers193929339
23andMe allrs193929339
SNP Nexus

SNPshotrs193929339
SNPdbers193929339
MSV3drs193929339
GWAS Ctlgrs193929339
StatusMerged into rs80356613
Max Magnitude0
ClinVar
Risk rs193929339(A;A)
Alt rs193929339(A;A)
Reference rs193929339(G;G)
Significance Pathogenic
Disease Transient neonatal diabetes mellitus 3
Variation info
Gene
CLNDBN Transient neonatal diabetes mellitus 3
Reversed 1
HGVS NC_000011.9:g.17409482C>T
CLNSRC OMIM Allelic Variant GeneReviews
CLNACC SCV000029436.1, SCV000029436.1, SCV000040726.1, SCV000040726.1,


[PMID 15718250] Relapsing diabetes can result from moderately activating mutations in KCNJ11.