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rs137852672

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852672(A;A)
Make rs137852672(A;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17463457
GeneABCC8
is asnp
is mentioned by
dbSNPrs137852672
ebirs137852672
HLIrs137852672
Exacrs137852672
Varsomers137852672
Maprs137852672
PheGenIrs137852672
hapmaprs137852672
1000 genomesrs137852672
hgdprs137852672
ensemblrs137852672
gopubmedrs137852672
geneviewrs137852672
scholarrs137852672
googlers137852672
pharmgkbrs137852672
gwascentralrs137852672
openSNPrs137852672
23andMers137852672
23andMe allrs137852672
SNP Nexus

SNPshotrs137852672
SNPdbers137852672
MSV3drs137852672
GWAS Ctlgrs137852672
Max Magnitude0
OMIM600509
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137852672(A;A)
Alt rs137852672(A;A)
Reference rs137852672(T;T)
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.17485004A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009667.2,