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rs80356621

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356621(A;G)
Make rs80356621(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387583
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs80356621
ebirs80356621
HLIrs80356621
Exacrs80356621
Varsomers80356621
Maprs80356621
PheGenIrs80356621
hapmaprs80356621
1000 genomesrs80356621
hgdprs80356621
ensemblrs80356621
gopubmedrs80356621
geneviewrs80356621
scholarrs80356621
googlers80356621
pharmgkbrs80356621
gwascentralrs80356621
openSNPrs80356621
23andMers80356621
23andMe allrs80356621
SNP Nexus

SNPshotrs80356621
SNPdbers80356621
MSV3drs80356621
GWAS Ctlgrs80356621
Max Magnitude0
OMIM600937
Desc
Variant0007
Relatedalso
ClinVar
Risk rs80356621(G;G)
Alt rs80356621(G;G)
Reference rs80356621(A;A)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene KCNJ11
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17409130T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009206.3,


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