rs56378716
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Myeloperoxidase Deficiency
0.810
GeneticVariation
BEFREE
Thus far four mutations (R569W, Y173C, M251T and a 14-base deletion in exon 9) have been identified in patients with MPO deficiency .
9766847
1998
rs119468010
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Myeloperoxidase Deficiency
0.810
GeneticVariation
BEFREE
We recently identified a missense mutation, R569W , in the MPO gene of many subjects with MPO deficiency .
8621627
1996
rs119468010
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Myeloperoxidase Deficiency
A
0.810
CausalMutation
CLINVAR
rs119468010
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Myeloperoxidase Deficiency
0.810
GeneticVariation
UNIPROT
rs56378716
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Myeloperoxidase Deficiency
G
0.810
CausalMutation
CLINVAR
rs56378716
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Myeloperoxidase Deficiency
0.810
GeneticVariation
UNIPROT
rs78950939
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Myeloperoxidase Deficiency
C
0.800
CausalMutation
CLINVAR
rs78950939
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Myeloperoxidase Deficiency
0.800
GeneticVariation
UNIPROT
rs34097845
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Blood Protein Measurement
T
0.700
GeneticVariation
GWASCAT
Genomic atlas of the human plasma proteome.
29875488
2018
rs35897051
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Blood Protein Measurement
G
0.700
GeneticVariation
GWASCAT
Genome-wide mapping of plasma protein QTLs identifies putatively causal genes and pathways for cardiovascular disease.
30111768
2018
rs35897051
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Blood Protein Measurement
G
0.700
GeneticVariation
GWASCAT
Genomic atlas of the human plasma proteome.
29875488
2018
rs34097845
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Monocyte count result
T
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs34097845
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Monocyte count procedure
T
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs56378716
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Eosinophil count procedure
G
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs56378716
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
White Blood Cell Count procedure
G
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs56378716
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Neutrophil count (procedure)
G
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs56378716
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Granulocyte count
G
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs56378716
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Blood basophil count (lab test)
G
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs28730837
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Myeloperoxidase Measurement
T
0.700
GeneticVariation
GWASDB
Gene-centric analyses in 8335 subjects of European ancestry additionally identified two rare MPO coding sequence variants that were associated with serum MPO levels (rs28730837 , P = 5.21 × 10(-12); rs35897051, P = 3.32 × 10(-8)).
23620142
2013
rs35897051
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Myeloperoxidase Measurement
C
0.700
GeneticVariation
GWASDB
Gene-centric analyses in 8335 subjects of European ancestry additionally identified two rare MPO coding sequence variants that were associated with serum MPO levels (rs28730837, P = 5.21 × 10(-12); rs35897051 , P = 3.32 × 10(-8)).
23620142
2013
rs35897051
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Myeloperoxidase Deficiency
G
0.700
CausalMutation
CLINVAR
Genetic characterization of myeloperoxidase deficiency in Italy.
15108282
2004
rs35897051
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Myeloperoxidase Deficiency
G
0.700
CausalMutation
CLINVAR
Clinical manifestation of myeloperoxidase deficiency.
9766845
1998
rs35897051
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Myeloperoxidase Deficiency
G
0.700
CausalMutation
CLINVAR
Hereditary myeloperoxidase deficiency.
6260268
1981
rs119469012
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Myeloperoxidase Deficiency
C
0.700
CausalMutation
CLINVAR
rs119469013
×
Entrez Id:
4353
Gene Symbol:
MPO
MPO
Myeloperoxidase Deficiency
T
0.700
CausalMutation
CLINVAR