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rs80356620

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356620(A;C)
Make rs80356620(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387593
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs80356620
ClinGenrs80356620
ebirs80356620
HLIrs80356620
Exacrs80356620
Varsomers80356620
Maprs80356620
PheGenIrs80356620
hapmaprs80356620
1000 genomesrs80356620
hgdprs80356620
ensemblrs80356620
gopubmedrs80356620
geneviewrs80356620
scholarrs80356620
googlers80356620
pharmgkbrs80356620
gwascentralrs80356620
openSNPrs80356620
23andMers80356620
23andMe allrs80356620
SNP Nexus

SNPshotrs80356620
SNPdbers80356620
MSV3drs80356620
GWAS Ctlgrs80356620
Max Magnitude0
OMIM600937
Desc
Variant0016
Relatedalso
ClinVar
Risk rs80356620(C;C)
Alt rs80356620(C;C)
Reference Rs80356620(A;A)
Significance Pathogenic
Disease Diabetes mellitus Permanent neonatal diabetes mellitus
Variation info
Gene KCNJ11
CLNDBN Diabetes mellitus, permanent neonatal, with neurologic features Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17409140T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009217.4, RCV000020353.1,


[PMID 17652641] A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.