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rs72559716

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72559716(C;T)
Make rs72559716(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position17395172
GeneABCC8
is asnp
is mentioned by
dbSNPrs72559716
ebirs72559716
HLIrs72559716
Exacrs72559716
Varsomers72559716
Maprs72559716
PheGenIrs72559716
hapmaprs72559716
1000 genomesrs72559716
hgdprs72559716
ensemblrs72559716
gopubmedrs72559716
geneviewrs72559716
scholarrs72559716
googlers72559716
pharmgkbrs72559716
gwascentralrs72559716
openSNPrs72559716
23andMers72559716
23andMe allrs72559716
SNP Nexus

SNPshotrs72559716
SNPdbers72559716
MSV3drs72559716
GWAS Ctlgrs72559716
Max Magnitude0
ClinVar
Risk rs72559716(T;T)
Alt rs72559716(T;T)
Reference rs72559716(C;C)
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.17416719C>T
CLNSRC Counsyl
CLNACC RCV000169299.1,