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rs137852674

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852674(C;G)
Make rs137852674(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position17430887
GeneABCC8
is asnp
is mentioned by
dbSNPrs137852674
dbSNP (classic)rs137852674
ClinGenrs137852674
ebirs137852674
HLIrs137852674
Exacrs137852674
Gnomadrs137852674
Varsomers137852674
LitVarrs137852674
Maprs137852674
PheGenIrs137852674
Biobankrs137852674
1000 genomesrs137852674
hgdprs137852674
ensemblrs137852674
geneviewrs137852674
scholarrs137852674
googlers137852674
pharmgkbrs137852674
gwascentralrs137852674
openSNPrs137852674
23andMers137852674
SNPshotrs137852674
SNPdbers137852674
MSV3drs137852674
GWAS Ctlgrs137852674
Max Magnitude0
OMIM600509
Desc
Variant0020
Relatedalso
ClinVar
Risk rs137852674(G;G)
Alt rs137852674(G;G)
Reference Rs137852674(C;C)
Significance Pathogenic
Disease Transient neonatal diabetes mellitus 2 Diabetes mellitus type 2
Variation info
Gene ABCC8
CLNDBN Transient neonatal diabetes mellitus 2 Diabetes mellitus type 2
Reversed 1
HGVS NC_000011.9:g.17452434G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000009675.3, RCV000009676.3,