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rs1057516281

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516281(C;T)
Make rs1057516281(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17398344
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057516281
dbSNP (old)rs1057516281
ClinGenrs1057516281
ebirs1057516281
HLIrs1057516281
Exacrs1057516281
Gnomadrs1057516281
Varsomers1057516281
Maprs1057516281
PheGenIrs1057516281
Biobankrs1057516281
1000 genomesrs1057516281
hgdprs1057516281
ensemblrs1057516281
gopubmedrs1057516281
geneviewrs1057516281
scholarrs1057516281
googlers1057516281
pharmgkbrs1057516281
gwascentralrs1057516281
openSNPrs1057516281
23andMers1057516281
23andMe allrs1057516281
SNPshotrs1057516281
SNPdbers1057516281
MSV3drs1057516281
GWAS Ctlgrs1057516281
Max Magnitude0
ClinVar
Risk rs1057516281(T;T)
Alt rs1057516281(T;T)
Reference Rs1057516281(C;C)
Significance Pathogenic
Disease Persistent hyperinsulinemic hypoglycemia of infancy
Variation info
Gene ABCC8
CLNDBN Persistent hyperinsulinemic hypoglycemia of infancy
Reversed 1
HGVS NC_000011.9:g.17419891G>A
CLNSRC
CLNACC RCV000410347.1,