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rs28936678

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs28936678(C;C)
Make rs28936678(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387652
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs28936678
ebirs28936678
HLIrs28936678
Exacrs28936678
Varsomers28936678
Maprs28936678
PheGenIrs28936678
hapmaprs28936678
1000 genomesrs28936678
hgdprs28936678
ensemblrs28936678
gopubmedrs28936678
geneviewrs28936678
scholarrs28936678
googlers28936678
pharmgkbrs28936678
gwascentralrs28936678
openSNPrs28936678
23andMers28936678
23andMe allrs28936678
SNP Nexus

SNPshotrs28936678
SNPdbers28936678
MSV3drs28936678
GWAS Ctlgrs28936678
Max Magnitude0
OMIM600937
DescHYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 2
Variant0001
Relatedalso
Neighborrs5215
Distance569
Neighborrs5219
Distance373


ClinVar
Risk rs28936678(C;C)
Alt rs28936678(C;C)
Reference rs28936678(T;T)
Significance Pathogenic
Disease Islet cell hyperplasia
Variation info
Gene KCNJ11
CLNDBN Islet cell hyperplasia
Reversed 1
HGVS NC_000011.9:g.17409199A>G
CLNSRC University Hospital of Geneva OMIM Allelic Variant
CLNACC RCV000009197.4,