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rs80356622

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356622(C;C)
Make rs80356622(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387582
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs80356622
dbSNP (old)rs80356622
ClinGenrs80356622
ebirs80356622
HLIrs80356622
Exacrs80356622
Varsomers80356622
Maprs80356622
PheGenIrs80356622
Biobankrs80356622
1000 genomesrs80356622
hgdprs80356622
ensemblrs80356622
gopubmedrs80356622
geneviewrs80356622
scholarrs80356622
googlers80356622
pharmgkbrs80356622
gwascentralrs80356622
openSNPrs80356622
23andMers80356622
23andMe allrs80356622
SNP Nexus

SNPshotrs80356622
SNPdbers80356622
MSV3drs80356622
GWAS Ctlgrs80356622
Max Magnitude0
OMIM600937
Desc
Variant0008
Relatedalso
ClinVar
Risk rs80356622(C;C)
Alt rs80356622(C;C)
Reference Rs80356622(G;G)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene KCNJ11
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17409129C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009207.4,


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