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rs137852675

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852675(A;A)
Make rs137852675(A;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position17404518
GeneABCC8
is asnp
is mentioned by
dbSNPrs137852675
dbSNP (classic)rs137852675
ClinGenrs137852675
ebirs137852675
HLIrs137852675
Exacrs137852675
Gnomadrs137852675
Varsomers137852675
LitVarrs137852675
Maprs137852675
PheGenIrs137852675
Biobankrs137852675
1000 genomesrs137852675
hgdprs137852675
ensemblrs137852675
geneviewrs137852675
scholarrs137852675
googlers137852675
pharmgkbrs137852675
gwascentralrs137852675
openSNPrs137852675
23andMers137852675
SNPshotrs137852675
SNPdbers137852675
MSV3drs137852675
GWAS Ctlgrs137852675
Max Magnitude0
OMIM600509
Desc
Variant0023
Relatedalso
ClinVar
Risk rs137852675(A;A)
Alt rs137852675(A;A)
Reference Rs137852675(C;C)
Significance Untested
Disease Permanent neonatal diabetes mellitus
Variation info
Gene ABCC8
CLNDBN Permanent neonatal diabetes mellitus
Reversed 1
HGVS NC_000011.9:g.17426065G>T
CLNSRC OMIM Allelic Variant GeneReviews
CLNACC SCV000029897.1, SCV000029897.1, SCV000040644.1, SCV000040644.1,