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rs72559713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs72559713(A;G)
Make rs72559713(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position17393109
GeneABCC8
is asnp
is mentioned by
dbSNPrs72559713
dbSNP (old)rs72559713
ClinGenrs72559713
ebirs72559713
HLIrs72559713
Exacrs72559713
Varsomers72559713
Maprs72559713
PheGenIrs72559713
Biobankrs72559713
1000 genomesrs72559713
hgdprs72559713
ensemblrs72559713
gopubmedrs72559713
geneviewrs72559713
scholarrs72559713
googlers72559713
pharmgkbrs72559713
gwascentralrs72559713
openSNPrs72559713
23andMers72559713
23andMe allrs72559713
SNP Nexus

SNPshotrs72559713
SNPdbers72559713
MSV3drs72559713
GWAS Ctlgrs72559713
Max Magnitude0
ClinVar
Risk rs72559713(G;G)
Alt rs72559713(G;G)
Reference Rs72559713(A;A)
Significance Probable-Pathogenic
Disease Persistent hyperinsulinemic hypoglycemia of infancy
Variation info
Gene ABCC8
CLNDBN Persistent hyperinsulinemic hypoglycemia of infancy
Reversed 0
HGVS NC_000011.9:g.17414656A>G
CLNSRC UniProtKB (protein)
CLNACC RCV000169185.1,