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rs1057516439

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516439(C;G)
Make rs1057516439(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17404544
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057516439
dbSNP (classic)rs1057516439
ClinGenrs1057516439
ebirs1057516439
HLIrs1057516439
Exacrs1057516439
Gnomadrs1057516439
Varsomers1057516439
LitVarrs1057516439
Maprs1057516439
PheGenIrs1057516439
Biobankrs1057516439
1000 genomesrs1057516439
hgdprs1057516439
ensemblrs1057516439
geneviewrs1057516439
scholarrs1057516439
googlers1057516439
pharmgkbrs1057516439
gwascentralrs1057516439
openSNPrs1057516439
23andMers1057516439
23andMe allrs1057516439
SNPshotrs1057516439
SNPdbers1057516439
MSV3drs1057516439
GWAS Ctlgrs1057516439
Max Magnitude0
ClinVar
Risk rs1057516439(G;G)
Alt rs1057516439(G;G)
Reference Rs1057516439(C;C)
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.17426091G>C
CLNSRC
CLNACC RCV000411703.1,