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rs1057517050

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517050(-;-)
Make rs1057517050(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17396915
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057517050
dbSNP (old)rs1057517050
ClinGenrs1057517050
ebirs1057517050
HLIrs1057517050
Exacrs1057517050
Gnomadrs1057517050
Varsomers1057517050
Maprs1057517050
PheGenIrs1057517050
Biobankrs1057517050
1000 genomesrs1057517050
hgdprs1057517050
ensemblrs1057517050
gopubmedrs1057517050
geneviewrs1057517050
scholarrs1057517050
googlers1057517050
pharmgkbrs1057517050
gwascentralrs1057517050
openSNPrs1057517050
23andMers1057517050
23andMe allrs1057517050
SNPshotrs1057517050
SNPdbers1057517050
MSV3drs1057517050
GWAS Ctlgrs1057517050
Max Magnitude0
ClinVar
Risk rs1057517050(-;-)
Alt rs1057517050(-;-)
Reference Rs1057517050(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.17418462delC
CLNSRC
CLNACC RCV000412039.1,