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rs80356651

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356651(A;A)
Make rs80356651(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17453151
GeneABCC8
is asnp
is mentioned by
dbSNPrs80356651
ebirs80356651
HLIrs80356651
Exacrs80356651
Varsomers80356651
Maprs80356651
PheGenIrs80356651
hapmaprs80356651
1000 genomesrs80356651
hgdprs80356651
ensemblrs80356651
gopubmedrs80356651
geneviewrs80356651
scholarrs80356651
googlers80356651
pharmgkbrs80356651
gwascentralrs80356651
openSNPrs80356651
23andMers80356651
23andMe allrs80356651
SNP Nexus

SNPshotrs80356651
SNPdbers80356651
MSV3drs80356651
GWAS Ctlgrs80356651
Max Magnitude0
OMIM600509
Desc
Variant0022
Relatedalso
ClinVar
Risk rs80356651(A;A)
Alt rs80356651(A;A)
Reference rs80356651(G;G)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene ABCC8
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17474698C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009678.4,


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