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rs1057516509

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516509(C;C)
Make rs1057516509(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17432203
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057516509
dbSNP (old)rs1057516509
ClinGenrs1057516509
ebirs1057516509
HLIrs1057516509
Exacrs1057516509
Gnomadrs1057516509
Varsomers1057516509
Maprs1057516509
PheGenIrs1057516509
Biobankrs1057516509
1000 genomesrs1057516509
hgdprs1057516509
ensemblrs1057516509
gopubmedrs1057516509
geneviewrs1057516509
scholarrs1057516509
googlers1057516509
pharmgkbrs1057516509
gwascentralrs1057516509
openSNPrs1057516509
23andMers1057516509
23andMe allrs1057516509
SNPshotrs1057516509
SNPdbers1057516509
MSV3drs1057516509
GWAS Ctlgrs1057516509
Max Magnitude0
ClinVar
Risk rs1057516509(C;C)
Alt rs1057516509(C;C)
Reference Rs1057516509(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.17453750C>G
CLNSRC
CLNACC RCV000412268.1,