MPO, myeloperoxidase, 4353

N. diseases: 653; N. variants: 25
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56378716
rs56378716
Entrez Id: 4353
Gene Symbol: MPO
MPO
CUI: C0398595
Disease:
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
Entrez Id: 4353
Gene Symbol: MPO
MPO
CUI: C0398595
Disease:
Myeloperoxidase Deficiency
G 0.810 CausalMutation CLINVAR
dbSNP: rs56378716
rs56378716
Entrez Id: 4353
Gene Symbol: MPO
MPO
CUI: C0398595
Disease:
Myeloperoxidase Deficiency
0.810 GeneticVariation UNIPROT