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rs80356634

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356634(A;G)
Make rs80356634(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17474961
GeneABCC8
is asnp
is mentioned by
dbSNPrs80356634
ebirs80356634
HLIrs80356634
Exacrs80356634
Varsomers80356634
Maprs80356634
PheGenIrs80356634
hapmaprs80356634
1000 genomesrs80356634
hgdprs80356634
ensemblrs80356634
gopubmedrs80356634
geneviewrs80356634
scholarrs80356634
googlers80356634
pharmgkbrs80356634
gwascentralrs80356634
openSNPrs80356634
23andMers80356634
23andMe allrs80356634
SNP Nexus

SNPshotrs80356634
SNPdbers80356634
MSV3drs80356634
GWAS Ctlgrs80356634
Max Magnitude0
OMIM600509
Desc
Variant0021
Relatedalso
ClinVar
Risk rs80356634(G;G)
Alt rs80356634(G;G)
Reference rs80356634(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.17496508T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009677.2,


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