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rs28938469

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28938469(C;T)
Make rs28938469(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17395659
GeneABCC8
is asnp
is mentioned by
dbSNPrs28938469
ebirs28938469
HLIrs28938469
Exacrs28938469
Varsomers28938469
Maprs28938469
PheGenIrs28938469
hapmaprs28938469
1000 genomesrs28938469
hgdprs28938469
ensemblrs28938469
gopubmedrs28938469
geneviewrs28938469
scholarrs28938469
googlers28938469
pharmgkbrs28938469
gwascentralrs28938469
openSNPrs28938469
23andMers28938469
23andMe allrs28938469
SNP Nexus

SNPshotrs28938469
SNPdbers28938469
MSV3drs28938469
GWAS Ctlgrs28938469
Max Magnitude0
OMIM600509
DescHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1
Variant0009
Relatedalso


ClinVar
Risk rs28938469(T;T)
Alt rs28938469(T;T)
Reference rs28938469(C;C)
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.17417206G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009663.3,