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rs137852673

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852673(C;T)
Make rs137852673(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position17395915
GeneABCC8
is asnp
is mentioned by
dbSNPrs137852673
dbSNP (classic)rs137852673
ClinGenrs137852673
ebirs137852673
HLIrs137852673
Exacrs137852673
Gnomadrs137852673
Varsomers137852673
LitVarrs137852673
Maprs137852673
PheGenIrs137852673
Biobankrs137852673
1000 genomesrs137852673
hgdprs137852673
ensemblrs137852673
geneviewrs137852673
scholarrs137852673
googlers137852673
pharmgkbrs137852673
gwascentralrs137852673
openSNPrs137852673
23andMers137852673
SNPshotrs137852673
SNPdbers137852673
MSV3drs137852673
GWAS Ctlgrs137852673
Max Magnitude0
OMIM600509
Desc
Variant0019
Relatedalso
ClinVar
Risk rs137852673(A;A) rs137852673(T;T)
Alt rs137852673(A;A) rs137852673(T;T)
Reference Rs137852673(C;C)
Significance Pathogenic
Disease Transient neonatal diabetes mellitus 2 Diabetes mellitus type 2 Neonatal diabetes mellitus
Variation info
Gene ABCC8
CLNDBN Transient neonatal diabetes mellitus 2 Diabetes mellitus type 2 Neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17417462G>A; NC_000011.9:g.17417462G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009673.3, RCV000009674.3, RCV000029261.1,