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rs797045211

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045211(A;A)
Make rs797045211(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome11
Position17396915
GeneABCC8
is asnp
is mentioned by
dbSNPrs797045211
dbSNP (classic)rs797045211
ClinGenrs797045211
ebirs797045211
HLIrs797045211
Exacrs797045211
Gnomadrs797045211
Varsomers797045211
LitVarrs797045211
Maprs797045211
PheGenIrs797045211
Biobankrs797045211
1000 genomesrs797045211
hgdprs797045211
ensemblrs797045211
geneviewrs797045211
scholarrs797045211
googlers797045211
pharmgkbrs797045211
gwascentralrs797045211
openSNPrs797045211
23andMers797045211
SNPshotrs797045211
SNPdbers797045211
MSV3drs797045211
GWAS Ctlgrs797045211
Max Magnitude0
ClinVar
Risk rs797045211(A;A)
Alt rs797045211(A;A)
Reference Rs797045211(G;G)
Significance Pathogenic
Disease Persistent hyperinsulinemic hypoglycemia of infancy
Variation info
Gene ABCC8
CLNDBN Persistent hyperinsulinemic hypoglycemia of infancy
Reversed 1
HGVS NC_000011.9:g.17418462C>T
CLNSRC
CLNACC RCV000193386.1,