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rs1057516542

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs1057516542(-;-)
Make rs1057516542(-;AC)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17427884
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057516542
dbSNP (old)rs1057516542
ClinGenrs1057516542
ebirs1057516542
HLIrs1057516542
Exacrs1057516542
Gnomadrs1057516542
Varsomers1057516542
Maprs1057516542
PheGenIrs1057516542
Biobankrs1057516542
1000 genomesrs1057516542
hgdprs1057516542
ensemblrs1057516542
gopubmedrs1057516542
geneviewrs1057516542
scholarrs1057516542
googlers1057516542
pharmgkbrs1057516542
gwascentralrs1057516542
openSNPrs1057516542
23andMers1057516542
23andMe allrs1057516542
SNPshotrs1057516542
SNPdbers1057516542
MSV3drs1057516542
GWAS Ctlgrs1057516542
Max Magnitude0
ClinVar
Risk rs1057516542(-;-)
Alt rs1057516542(-;-)
Reference Rs1057516542(AC;AC)
Significance Probable-Pathogenic
Disease Persistent hyperinsulinemic hypoglycemia of infancy
Variation info
Gene ABCC8
CLNDBN Persistent hyperinsulinemic hypoglycemia of infancy
Reversed 1
HGVS NC_000011.9:g.17449431_17449432delGT
CLNSRC
CLNACC RCV000411725.1,