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rs1057517015

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517015(A;G)
Make rs1057517015(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17463606
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057517015
dbSNP (old)rs1057517015
ClinGenrs1057517015
ebirs1057517015
HLIrs1057517015
Exacrs1057517015
Gnomadrs1057517015
Varsomers1057517015
LitVarrs1057517015
Maprs1057517015
PheGenIrs1057517015
Biobankrs1057517015
1000 genomesrs1057517015
hgdprs1057517015
ensemblrs1057517015
gopubmedrs1057517015
geneviewrs1057517015
scholarrs1057517015
googlers1057517015
pharmgkbrs1057517015
gwascentralrs1057517015
openSNPrs1057517015
23andMers1057517015
23andMe allrs1057517015
SNPshotrs1057517015
SNPdbers1057517015
MSV3drs1057517015
GWAS Ctlgrs1057517015
Max Magnitude0
ClinVar
Risk rs1057517015(G;G)
Alt rs1057517015(G;G)
Reference Rs1057517015(A;A)
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.17485153T>C
CLNSRC
CLNACC RCV000410546.1,