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rs1057516655

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516655(-;-)
Make rs1057516655(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17394337
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057516655
dbSNP (old)rs1057516655
ClinGenrs1057516655
ebirs1057516655
HLIrs1057516655
Exacrs1057516655
Gnomadrs1057516655
Varsomers1057516655
Maprs1057516655
PheGenIrs1057516655
Biobankrs1057516655
1000 genomesrs1057516655
hgdprs1057516655
ensemblrs1057516655
gopubmedrs1057516655
geneviewrs1057516655
scholarrs1057516655
googlers1057516655
pharmgkbrs1057516655
gwascentralrs1057516655
openSNPrs1057516655
23andMers1057516655
23andMe allrs1057516655
SNPshotrs1057516655
SNPdbers1057516655
MSV3drs1057516655
GWAS Ctlgrs1057516655
Max Magnitude0
ClinVar
Risk rs1057516655(-;-)
Alt rs1057516655(-;-)
Reference Rs1057516655(G;G)
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.17415884delC
CLNSRC
CLNACC RCV000409758.1,