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rs1057516317

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516317(-;-)
Make rs1057516317(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17402737
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057516317
dbSNP (old)rs1057516317
ClinGenrs1057516317
ebirs1057516317
HLIrs1057516317
Exacrs1057516317
Gnomadrs1057516317
Varsomers1057516317
LitVarrs1057516317
Maprs1057516317
PheGenIrs1057516317
Biobankrs1057516317
1000 genomesrs1057516317
hgdprs1057516317
ensemblrs1057516317
gopubmedrs1057516317
geneviewrs1057516317
scholarrs1057516317
googlers1057516317
pharmgkbrs1057516317
gwascentralrs1057516317
openSNPrs1057516317
23andMers1057516317
23andMe allrs1057516317
SNPshotrs1057516317
SNPdbers1057516317
MSV3drs1057516317
GWAS Ctlgrs1057516317
Max Magnitude0
ClinVar
Risk rs1057516317(-;-)
Alt rs1057516317(-;-)
Reference Rs1057516317(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.17424284delC
CLNSRC
CLNACC RCV000410895.1,