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rs1057517019

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057517019(-;C)
Make rs1057517019(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17410526
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057517019
dbSNP (old)rs1057517019
ClinGenrs1057517019
ebirs1057517019
HLIrs1057517019
Exacrs1057517019
Gnomadrs1057517019
Varsomers1057517019
Maprs1057517019
PheGenIrs1057517019
Biobankrs1057517019
1000 genomesrs1057517019
hgdprs1057517019
ensemblrs1057517019
gopubmedrs1057517019
geneviewrs1057517019
scholarrs1057517019
googlers1057517019
pharmgkbrs1057517019
gwascentralrs1057517019
openSNPrs1057517019
23andMers1057517019
23andMe allrs1057517019
SNPshotrs1057517019
SNPdbers1057517019
MSV3drs1057517019
GWAS Ctlgrs1057517019
Max Magnitude0
ClinVar
Risk rs1057517019(C;C)
Alt rs1057517019(C;C)
Reference Rs1057517019(-;-)
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.17432074dupG
CLNSRC
CLNACC RCV000410254.1,