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rs541269678

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs541269678(A;A)
Make rs541269678(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position17407417
GeneABCC8
is asnp
is mentioned by
dbSNPrs541269678
dbSNP (classic)rs541269678
ClinGenrs541269678
ebirs541269678
HLIrs541269678
Exacrs541269678
Gnomadrs541269678
Varsomers541269678
LitVarrs541269678
Maprs541269678
PheGenIrs541269678
Biobankrs541269678
1000 genomesrs541269678
hgdprs541269678
ensemblrs541269678
geneviewrs541269678
scholarrs541269678
googlers541269678
pharmgkbrs541269678
gwascentralrs541269678
openSNPrs541269678
23andMers541269678
SNPshotrs541269678
SNPdbers541269678
MSV3drs541269678
GWAS Ctlgrs541269678
Max Magnitude0
ClinVar
Risk rs541269678(A;A)
Alt rs541269678(A;A)
Reference Rs541269678(G;G)
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.17428964G>A
CLNSRC Counsyl
CLNACC RCV000169265.1,