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rs72559723

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72559723(A;A)
Make rs72559723(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position17427124
GeneABCC8
is asnp
is mentioned by
dbSNPrs72559723
ebirs72559723
HLIrs72559723
Exacrs72559723
Varsomers72559723
Maprs72559723
PheGenIrs72559723
hapmaprs72559723
1000 genomesrs72559723
hgdprs72559723
ensemblrs72559723
gopubmedrs72559723
geneviewrs72559723
scholarrs72559723
googlers72559723
pharmgkbrs72559723
gwascentralrs72559723
openSNPrs72559723
23andMers72559723
23andMe allrs72559723
SNP Nexus

SNPshotrs72559723
SNPdbers72559723
MSV3drs72559723
GWAS Ctlgrs72559723
Max Magnitude0
OMIM600509
Desc
Variant0003
Relatedalso


ClinVar
Risk rs72559723(A;A)
Alt rs72559723(A;A)
Reference rs72559723(C;C)
Significance Pathogenic
Disease Persistent hyperinsulinemic hypoglycemia of infancy not provided
Variation info
Gene ABCC8
CLNDBN Persistent hyperinsulinemic hypoglycemia of infancy not provided
Reversed 0
HGVS NC_000011.9:g.17448671C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009655.2, RCV000077845.1,