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rs1057517406

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517406(G;T)
Make rs1057517406(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17395931
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057517406
dbSNP (old)rs1057517406
ClinGenrs1057517406
ebirs1057517406
HLIrs1057517406
Exacrs1057517406
Gnomadrs1057517406
Varsomers1057517406
Maprs1057517406
PheGenIrs1057517406
Biobankrs1057517406
1000 genomesrs1057517406
hgdprs1057517406
ensemblrs1057517406
gopubmedrs1057517406
geneviewrs1057517406
scholarrs1057517406
googlers1057517406
pharmgkbrs1057517406
gwascentralrs1057517406
openSNPrs1057517406
23andMers1057517406
23andMe allrs1057517406
SNPshotrs1057517406
SNPdbers1057517406
MSV3drs1057517406
GWAS Ctlgrs1057517406
Max Magnitude0
ClinVar
Risk rs1057517406(T;T)
Alt rs1057517406(T;T)
Reference Rs1057517406(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.17417478C>A
CLNSRC
CLNACC RCV000412164.1,