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rs1057516718

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516718(C;T)
Make rs1057516718(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17397014
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057516718
dbSNP (classic)rs1057516718
ClinGenrs1057516718
ebirs1057516718
HLIrs1057516718
Exacrs1057516718
Gnomadrs1057516718
Varsomers1057516718
LitVarrs1057516718
Maprs1057516718
PheGenIrs1057516718
Biobankrs1057516718
1000 genomesrs1057516718
hgdprs1057516718
ensemblrs1057516718
geneviewrs1057516718
scholarrs1057516718
googlers1057516718
pharmgkbrs1057516718
gwascentralrs1057516718
openSNPrs1057516718
23andMers1057516718
23andMe allrs1057516718
SNPshotrs1057516718
SNPdbers1057516718
MSV3drs1057516718
GWAS Ctlgrs1057516718
Max Magnitude0
ClinVar
Risk rs1057516718(T;T)
Alt rs1057516718(T;T)
Reference Rs1057516718(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.17418561G>A
CLNSRC
CLNACC RCV000411306.1,