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rs80356642

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356642(G;G)
Make rs80356642(G;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17461767
GeneABCC8
is asnp
is mentioned by
dbSNPrs80356642
ebirs80356642
HLIrs80356642
Exacrs80356642
Varsomers80356642
Maprs80356642
PheGenIrs80356642
hapmaprs80356642
1000 genomesrs80356642
hgdprs80356642
ensemblrs80356642
gopubmedrs80356642
geneviewrs80356642
scholarrs80356642
googlers80356642
pharmgkbrs80356642
gwascentralrs80356642
openSNPrs80356642
23andMers80356642
23andMe allrs80356642
SNP Nexus

SNPshotrs80356642
SNPdbers80356642
MSV3drs80356642
GWAS Ctlgrs80356642
Max Magnitude0
OMIM600509
Desc
Variant0017
Relatedalso
ClinVar
Risk rs80356642(G;G)
Alt rs80356642(G;G)
Reference rs80356642(T;T)
Significance Pathogenic
Disease Permanent neonatal diabetes mellitus
Variation info
Gene ABCC8
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17483314A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009671.2,


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