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rs80356640

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356640(A;A)
Make rs80356640(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position17461778
GeneABCC8
is asnp
is mentioned by
dbSNPrs80356640
ebirs80356640
HLIrs80356640
Exacrs80356640
Varsomers80356640
Maprs80356640
PheGenIrs80356640
hapmaprs80356640
1000 genomesrs80356640
hgdprs80356640
ensemblrs80356640
gopubmedrs80356640
geneviewrs80356640
scholarrs80356640
googlers80356640
pharmgkbrs80356640
gwascentralrs80356640
openSNPrs80356640
23andMers80356640
23andMe allrs80356640
SNP Nexus

SNPshotrs80356640
SNPdbers80356640
MSV3drs80356640
GWAS Ctlgrs80356640
Max Magnitude0
ClinVar
Risk rs80356640(A,T;A,T)
Alt rs80356640(A,T;A,T)
Reference rs80356640(C;C)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene ABCC8
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17483325G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020289.1,


[PMID 17446535] Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood.


[PMID 17668386OA-icon.png] Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects.