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rs80356653

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356653(A;G)
Make rs80356653(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17395647
GeneABCC8
is asnp
is mentioned by
dbSNPrs80356653
ebirs80356653
HLIrs80356653
Exacrs80356653
Varsomers80356653
Maprs80356653
PheGenIrs80356653
hapmaprs80356653
1000 genomesrs80356653
hgdprs80356653
ensemblrs80356653
gopubmedrs80356653
geneviewrs80356653
scholarrs80356653
googlers80356653
pharmgkbrs80356653
gwascentralrs80356653
openSNPrs80356653
23andMers80356653
23andMe allrs80356653
SNP Nexus

SNPshotrs80356653
SNPdbers80356653
MSV3drs80356653
GWAS Ctlgrs80356653
Max Magnitude0
OMIM600509
Desc
Variant0018
Relatedalso
ClinVar
Risk rs80356653(G;G)
Alt rs80356653(G;G)
Reference rs80356653(A;A)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene ABCC8
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17417194T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009672.4,


[PMID 16885549] Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.