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rs72559722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72559722(A;A)
Make rs72559722(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position17412716
GeneABCC8
is asnp
is mentioned by
dbSNPrs72559722
dbSNP (classic)rs72559722
ClinGenrs72559722
ebirs72559722
HLIrs72559722
Exacrs72559722
Gnomadrs72559722
Varsomers72559722
LitVarrs72559722
Maprs72559722
PheGenIrs72559722
Biobankrs72559722
1000 genomesrs72559722
hgdprs72559722
ensemblrs72559722
geneviewrs72559722
scholarrs72559722
googlers72559722
pharmgkbrs72559722
gwascentralrs72559722
openSNPrs72559722
23andMers72559722
SNPshotrs72559722
SNPdbers72559722
MSV3drs72559722
GWAS Ctlgrs72559722
Max Magnitude0
ClinVar
Risk rs72559722(A;A)
Alt rs72559722(A;A)
Reference Rs72559722(G;G)
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.17434263G>A
CLNSRC Counsyl
CLNACC RCV000169276.1, RCV000201895.1,