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rs104894248

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894248(A;G)
Make rs104894248(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17387316
GeneKCNJ11
is asnp
is mentioned by
dbSNPrs104894248
dbSNP (classic)rs104894248
ClinGenrs104894248
ebirs104894248
HLIrs104894248
Exacrs104894248
Gnomadrs104894248
Varsomers104894248
LitVarrs104894248
Maprs104894248
PheGenIrs104894248
Biobankrs104894248
1000 genomesrs104894248
hgdprs104894248
ensemblrs104894248
geneviewrs104894248
scholarrs104894248
googlers104894248
pharmgkbrs104894248
gwascentralrs104894248
openSNPrs104894248
23andMers104894248
SNPshotrs104894248
SNPdbers104894248
MSV3drs104894248
GWAS Ctlgrs104894248
Max Magnitude0
OMIM600937
Desc
Variant0013
Relatedalso
ClinVar
Risk rs104894248(G;G)
Alt rs104894248(G;G)
Reference Rs104894248(A;A)
Significance Pathogenic
Disease Islet cell hyperplasia
Variation info
Gene KCNJ11
CLNDBN Islet cell hyperplasia
Reversed 1
HGVS NC_000011.9:g.17408863T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009213.4,