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rs137852671

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852671(A;A)
Make rs137852671(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17394295
GeneABCC8
is asnp
is mentioned by
dbSNPrs137852671
dbSNP (classic)rs137852671
ClinGenrs137852671
ebirs137852671
HLIrs137852671
Exacrs137852671
Gnomadrs137852671
Varsomers137852671
LitVarrs137852671
Maprs137852671
PheGenIrs137852671
Biobankrs137852671
1000 genomesrs137852671
hgdprs137852671
ensemblrs137852671
geneviewrs137852671
scholarrs137852671
googlers137852671
pharmgkbrs137852671
gwascentralrs137852671
openSNPrs137852671
23andMers137852671
SNPshotrs137852671
SNPdbers137852671
MSV3drs137852671
GWAS Ctlgrs137852671
Max Magnitude0
OMIM600509
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137852671(A;A)
Alt rs137852671(A;A)
Reference Rs137852671(G;G)
Significance Pathogenic
Disease Persistent hyperinsulinemic hypoglycemia of infancy not provided
Variation info
Gene ABCC8
CLNDBN Persistent hyperinsulinemic hypoglycemia of infancy not provided
Reversed 1
HGVS NC_000011.9:g.17415842C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009665.4, RCV000201911.1,