Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356613

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356613(C;C)
Make rs80356613(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387935
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs80356613
ebirs80356613
HLIrs80356613
Exacrs80356613
Varsomers80356613
Maprs80356613
PheGenIrs80356613
hapmaprs80356613
1000 genomesrs80356613
hgdprs80356613
ensemblrs80356613
gopubmedrs80356613
geneviewrs80356613
scholarrs80356613
googlers80356613
pharmgkbrs80356613
gwascentralrs80356613
openSNPrs80356613
23andMers80356613
23andMe allrs80356613
SNP Nexus

SNPshotrs80356613
SNPdbers80356613
MSV3drs80356613
GWAS Ctlgrs80356613
Merged fromRs193929338, Rs193929339
Max Magnitude0
OMIM600937
Desc
Variant0017
Relatedalso
OMIM600937
Desc
Variant0018
Relatedalso
ClinVar
Risk rs80356613(A,C;A,C)
Alt rs80356613(A,C;A,C)
Reference rs80356613(G;G)
Significance Pathogenic
Disease Transient neonatal diabetes mellitus 3
Variation info
Gene KCNJ11
CLNDBN Transient neonatal diabetes mellitus 3
Reversed 1
HGVS NC_000011.9:g.17409482C>G; NC_000011.9:g.17409482C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009219.3, RCV000009218.3,


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