Have data from 23andMe or Ancestry? Make a report automatically with Promethease !

rs1057516591

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057516591(-;-)
Make rs1057516591(-;C)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position17463602
GeneABCC8
is asnp
is mentioned by
dbSNPrs1057516591
dbSNP (old)rs1057516591
ClinGenrs1057516591
ebirs1057516591
HLIrs1057516591
Exacrs1057516591
Gnomadrs1057516591
Varsomers1057516591
Maprs1057516591
PheGenIrs1057516591
Biobankrs1057516591
1000 genomesrs1057516591
hgdprs1057516591
ensemblrs1057516591
gopubmedrs1057516591
geneviewrs1057516591
scholarrs1057516591
googlers1057516591
pharmgkbrs1057516591
gwascentralrs1057516591
openSNPrs1057516591
23andMers1057516591
23andMe allrs1057516591
SNPshotrs1057516591
SNPdbers1057516591
MSV3drs1057516591
GWAS Ctlgrs1057516591
Max Magnitude0
ClinVar
Risk rs1057516591(-;-)
Alt rs1057516591(-;-)
Reference Rs1057516591(C;C)
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.17485149delG
CLNSRC
CLNACC RCV000412208.1,