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rs1057517128

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1057517128(C;C)
Make rs1057517128(C;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17443176
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057517128
dbSNP (old)rs1057517128
ClinGenrs1057517128
ebirs1057517128
HLIrs1057517128
Exacrs1057517128
Gnomadrs1057517128
Varsomers1057517128
LitVarrs1057517128
Maprs1057517128
PheGenIrs1057517128
Biobankrs1057517128
1000 genomesrs1057517128
hgdprs1057517128
ensemblrs1057517128
gopubmedrs1057517128
geneviewrs1057517128
scholarrs1057517128
googlers1057517128
pharmgkbrs1057517128
gwascentralrs1057517128
openSNPrs1057517128
23andMers1057517128
23andMe allrs1057517128
SNPshotrs1057517128
SNPdbers1057517128
MSV3drs1057517128
GWAS Ctlgrs1057517128
Max Magnitude0
ClinVar
Risk rs1057517128(C;C)
Alt rs1057517128(C;C)
Reference Rs1057517128(T;T)
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.17464723A>G
CLNSRC
CLNACC RCV000412284.1,