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rs1057516946

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057516946(A;C)
Make rs1057516946(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17442884
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057516946
dbSNP (old)rs1057516946
ClinGenrs1057516946
ebirs1057516946
HLIrs1057516946
Exacrs1057516946
Gnomadrs1057516946
Varsomers1057516946
LitVarrs1057516946
Maprs1057516946
PheGenIrs1057516946
Biobankrs1057516946
1000 genomesrs1057516946
hgdprs1057516946
ensemblrs1057516946
gopubmedrs1057516946
geneviewrs1057516946
scholarrs1057516946
googlers1057516946
pharmgkbrs1057516946
gwascentralrs1057516946
openSNPrs1057516946
23andMers1057516946
23andMe allrs1057516946
SNPshotrs1057516946
SNPdbers1057516946
MSV3drs1057516946
GWAS Ctlgrs1057516946
Max Magnitude0
ClinVar
Risk rs1057516946(C;C)
Alt rs1057516946(C;C)
Reference Rs1057516946(A;A)
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.17464431T>G
CLNSRC
CLNACC RCV000411098.1,