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rs28730837

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28730837(C;T)
Make rs28730837(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position58278036
GeneMPO
is asnp
is mentioned by
dbSNPrs28730837
dbSNP (classic)rs28730837
ClinGenrs28730837
ebirs28730837
HLIrs28730837
Exacrs28730837
Gnomadrs28730837
Varsomers28730837
LitVarrs28730837
Maprs28730837
PheGenIrs28730837
Biobankrs28730837
1000 genomesrs28730837
hgdprs28730837
ensemblrs28730837
geneviewrs28730837
scholarrs28730837
googlers28730837
pharmgkbrs28730837
gwascentralrs28730837
openSNPrs28730837
23andMers28730837
SNPshotrs28730837
SNPdbers28730837
MSV3drs28730837
GWAS Ctlgrs28730837
GMAF0.007805
Max Magnitude0
OMIM606989
DescMYELOPEROXIDASE DEFICIENCY
Variant0005
Relatedalso


[PMID 20031590OA-icon.png] The Relation of Genetic and Environmental Factors to Systemic Inflammatory Biomarker Concentrations


ClinVar
Risk rs28730837(T;T)
Alt rs28730837(T;T)
Reference Rs28730837(C;C)
Significance Pathogenic
Disease Myeloperoxidase deficiency
Variation info
Gene MPO
CLNDBN Myeloperoxidase deficiency
Reversed 1
HGVS NC_000017.10:g.56355397G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003814.3,



[PMID 23620142OA-icon.png] Genome-wide and Gene-Centric Analyses of Circulating Myeloperoxidase Levels in the CHARGE and CARe Consortia