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rs1057516404

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516404(A;A)
Make rs1057516404(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17395230
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057516404
dbSNP (old)rs1057516404
ClinGenrs1057516404
ebirs1057516404
HLIrs1057516404
Exacrs1057516404
Gnomadrs1057516404
Varsomers1057516404
Maprs1057516404
PheGenIrs1057516404
Biobankrs1057516404
1000 genomesrs1057516404
hgdprs1057516404
ensemblrs1057516404
gopubmedrs1057516404
geneviewrs1057516404
scholarrs1057516404
googlers1057516404
pharmgkbrs1057516404
gwascentralrs1057516404
openSNPrs1057516404
23andMers1057516404
23andMe allrs1057516404
SNPshotrs1057516404
SNPdbers1057516404
MSV3drs1057516404
GWAS Ctlgrs1057516404
Max Magnitude0
ClinVar
Risk rs1057516404(A;A)
Alt rs1057516404(A;A)
Reference Rs1057516404(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.17416777C>T
CLNSRC
CLNACC RCV000409836.1,