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rs1057517139

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517139(A;A)
Make rs1057517139(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17461713
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057517139
dbSNP (old)rs1057517139
ClinGenrs1057517139
ebirs1057517139
HLIrs1057517139
Exacrs1057517139
Gnomadrs1057517139
Varsomers1057517139
Maprs1057517139
PheGenIrs1057517139
Biobankrs1057517139
1000 genomesrs1057517139
hgdprs1057517139
ensemblrs1057517139
gopubmedrs1057517139
geneviewrs1057517139
scholarrs1057517139
googlers1057517139
pharmgkbrs1057517139
gwascentralrs1057517139
openSNPrs1057517139
23andMers1057517139
23andMe allrs1057517139
SNPshotrs1057517139
SNPdbers1057517139
MSV3drs1057517139
GWAS Ctlgrs1057517139
Max Magnitude0
ClinVar
Risk rs1057517139(A;A)
Alt rs1057517139(A;A)
Reference Rs1057517139(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.17483260C>T
CLNSRC
CLNACC RCV000410965.1,