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rs1057516890

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs1057516890(AA;T)
Make rs1057516890(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17396962
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057516890
dbSNP (old)rs1057516890
ClinGenrs1057516890
ebirs1057516890
HLIrs1057516890
Exacrs1057516890
Gnomadrs1057516890
Varsomers1057516890
Maprs1057516890
PheGenIrs1057516890
Biobankrs1057516890
1000 genomesrs1057516890
hgdprs1057516890
ensemblrs1057516890
gopubmedrs1057516890
geneviewrs1057516890
scholarrs1057516890
googlers1057516890
pharmgkbrs1057516890
gwascentralrs1057516890
openSNPrs1057516890
23andMers1057516890
23andMe allrs1057516890
SNPshotrs1057516890
SNPdbers1057516890
MSV3drs1057516890
GWAS Ctlgrs1057516890
Max Magnitude0
ClinVar
Risk rs1057516890(T;T)
Alt rs1057516890(T;T)
Reference Rs1057516890(AA;AA)
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.17418509_17418510delTTinsA
CLNSRC
CLNACC RCV000409392.1,