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rs80356610

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356610(C;C)
Make rs80356610(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387968
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs80356610
ebirs80356610
HLIrs80356610
Exacrs80356610
Varsomers80356610
Maprs80356610
PheGenIrs80356610
hapmaprs80356610
1000 genomesrs80356610
hgdprs80356610
ensemblrs80356610
gopubmedrs80356610
geneviewrs80356610
scholarrs80356610
googlers80356610
pharmgkbrs80356610
gwascentralrs80356610
openSNPrs80356610
23andMers80356610
23andMe allrs80356610
SNP Nexus

SNPshotrs80356610
SNPdbers80356610
MSV3drs80356610
GWAS Ctlgrs80356610
Max Magnitude0
OMIM600937
Desc
Variant0012
Relatedalso
ClinVar
Risk rs80356610(C;C)
Alt rs80356610(C;C)
Reference rs80356610(T;T)
Significance Pathogenic
Disease Transient neonatal diabetes mellitus 3 Permanent neonatal diabetes mellitus Maturity-onset diabetes of the young
Variation info
Gene KCNJ11
CLNDBN Transient neonatal diabetes mellitus 3 Permanent neonatal diabetes mellitus Maturity-onset diabetes of the young, type 13
Reversed 1
HGVS NC_000011.9:g.17409515A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009211.3, RCV000020347.1, RCV000170298.3,


[PMID 15784703] The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus.