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rs193929338

From SNPedia

Merged intors80356613
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs193929338(C;C)
Make rs193929338(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387935
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs193929338
ebirs193929338
HLIrs193929338
Exacrs193929338
Varsomers193929338
Maprs193929338
PheGenIrs193929338
hapmaprs193929338
1000 genomesrs193929338
hgdprs193929338
ensemblrs193929338
gopubmedrs193929338
geneviewrs193929338
scholarrs193929338
googlers193929338
pharmgkbrs193929338
gwascentralrs193929338
openSNPrs193929338
23andMers193929338
23andMe allrs193929338
SNP Nexus

SNPshotrs193929338
SNPdbers193929338
MSV3drs193929338
GWAS Ctlgrs193929338
StatusMerged into rs80356613
Max Magnitude0
ClinVar
Risk rs193929338(C;C)
Alt rs193929338(C;C)
Reference rs193929338(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>G
CLNSRC OMIM Allelic Variant GeneReviews
CLNACC SCV000029437.1, SCV000029437.1, SCV000040727.1, SCV000040727.1,


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