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rs28936371

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28936371(C;T)
Make rs28936371(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position17394334
GeneABCC8
is asnp
is mentioned by
dbSNPrs28936371
dbSNP (classic)rs28936371
ClinGenrs28936371
ebirs28936371
HLIrs28936371
Exacrs28936371
Gnomadrs28936371
Varsomers28936371
LitVarrs28936371
Maprs28936371
PheGenIrs28936371
Biobankrs28936371
1000 genomesrs28936371
hgdprs28936371
ensemblrs28936371
geneviewrs28936371
scholarrs28936371
googlers28936371
pharmgkbrs28936371
gwascentralrs28936371
openSNPrs28936371
23andMers28936371
SNPshotrs28936371
SNPdbers28936371
MSV3drs28936371
GWAS Ctlgrs28936371
Max Magnitude0
OMIM600509
DescHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 1
Variant0010
Relatedalso


ClinVar
Risk rs28936371(T;T)
Alt rs28936371(T;T)
Reference Rs28936371(C;C)
Significance Other
Disease Persistent hyperinsulinemic hypoglycemia of infancy
Variation info
Gene ABCC8
CLNDBN Persistent hyperinsulinemic hypoglycemia of infancy
Reversed 1
HGVS NC_000011.9:g.17415881G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009664.5,