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rs1057517420

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057517420(C;C)
Make rs1057517420(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17408518
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057517420
dbSNP (old)rs1057517420
ClinGenrs1057517420
ebirs1057517420
HLIrs1057517420
Exacrs1057517420
Gnomadrs1057517420
Varsomers1057517420
Maprs1057517420
PheGenIrs1057517420
Biobankrs1057517420
1000 genomesrs1057517420
hgdprs1057517420
ensemblrs1057517420
gopubmedrs1057517420
geneviewrs1057517420
scholarrs1057517420
googlers1057517420
pharmgkbrs1057517420
gwascentralrs1057517420
openSNPrs1057517420
23andMers1057517420
23andMe allrs1057517420
SNPshotrs1057517420
SNPdbers1057517420
MSV3drs1057517420
GWAS Ctlgrs1057517420
Max Magnitude0
ClinVar
Risk rs1057517420(C;C)
Alt rs1057517420(C;C)
Reference Rs1057517420(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.17430065C>G
CLNSRC
CLNACC RCV000409858.1,