Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119468010
rs119468010
MPO
CUI: C0398595
Disease: Myeloperoxidase Deficiency
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
dbSNP: rs119468010
rs119468010
MPO
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		A 0.810 CausalMutation CLINVAR

dbSNP: rs119468010
rs119468010
MPO
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.810 GeneticVariation UNIPROT

dbSNP: rs56378716
rs56378716
MPO
CUI: C0398595
Disease: Myeloperoxidase Deficiency
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
dbSNP: rs56378716
rs56378716
MPO
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		G 0.810 CausalMutation CLINVAR

dbSNP: rs56378716
rs56378716
MPO
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.810 GeneticVariation UNIPROT

dbSNP: rs78950939
rs78950939
MPO
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		C 0.800 CausalMutation CLINVAR

dbSNP: rs78950939
rs78950939
MPO
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 GeneticVariation UNIPROT

dbSNP: rs119469012
rs119469012
MPO
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		C 0.700 CausalMutation CLINVAR

dbSNP: rs119469013
rs119469013
MPO
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		T 0.700 CausalMutation CLINVAR

dbSNP: rs119469014
rs119469014
MPO
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		A 0.700 CausalMutation CLINVAR

dbSNP: rs28730837
rs28730837
MPO
CUI: C2698399
Disease: Myeloperoxidase Measurement
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
dbSNP: rs28730837
rs28730837
MPO
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		A 0.700 CausalMutation CLINVAR

dbSNP: rs34097845
rs34097845
MPO
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		T 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488

2018
dbSNP: rs34097845
rs34097845
MPO
CUI: C0750880
Disease: Monocyte count result
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
dbSNP: rs34097845
rs34097845
MPO
CUI: C0200637
Disease: Monocyte count procedure
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
dbSNP: rs35897051
rs35897051
MPO
CUI: C2985280
Disease: Blood Protein Measurement
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
dbSNP: rs35897051
rs35897051
MPO
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		G 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488

2018
dbSNP: rs35897051
rs35897051
MPO
CUI: C2698399
Disease: Myeloperoxidase Measurement
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
dbSNP: rs35897051
rs35897051
MPO
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		G 0.700 CausalMutation CLINVAR Genetic characterization of myeloperoxidase deficiency in Italy. 15108282

2004
dbSNP: rs35897051
rs35897051
MPO
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		G 0.700 CausalMutation CLINVAR Clinical manifestation of myeloperoxidase deficiency. 9766845

1998
dbSNP: rs35897051
rs35897051
MPO
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		G 0.700 CausalMutation CLINVAR Hereditary myeloperoxidase deficiency. 6260268

1981
dbSNP: rs536522394
rs536522394
MPO
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		G 0.700 CausalMutation CLINVAR

dbSNP: rs56378716
rs56378716
MPO
CUI: C0200638
Disease: Eosinophil count procedure
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
dbSNP: rs56378716
rs56378716
MPO
CUI: C0023508
Disease: White Blood Cell Count procedure
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