Gene: MPO ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56378716
rs56378716
MPO
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: rs119468010
rs119468010
MPO
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
A 0.810 CausalMutation CLINVAR

dbSNP: rs119468010
rs119468010
MPO
0.810 GeneticVariation UNIPROT

dbSNP: rs56378716
rs56378716
MPO
G 0.810 CausalMutation CLINVAR

dbSNP: rs56378716
rs56378716
MPO
0.810 GeneticVariation UNIPROT

dbSNP: rs78950939
rs78950939
MPO
C 0.800 CausalMutation CLINVAR

dbSNP: rs78950939
rs78950939
MPO
0.800 GeneticVariation UNIPROT

dbSNP: rs35897051
rs35897051
MPO
G 0.700 CausalMutation CLINVAR Genetic characterization of myeloperoxidase deficiency in Italy. 15108282

2004
dbSNP: rs35897051
rs35897051
MPO
G 0.700 CausalMutation CLINVAR Clinical manifestation of myeloperoxidase deficiency. 9766845

1998
dbSNP: rs35897051
rs35897051
MPO
G 0.700 CausalMutation CLINVAR Hereditary myeloperoxidase deficiency. 6260268

1981
dbSNP: rs119469012
rs119469012
MPO
C 0.700 CausalMutation CLINVAR

dbSNP: rs119469013
rs119469013
MPO
T 0.700 CausalMutation CLINVAR

dbSNP: rs119469014
rs119469014
MPO
A 0.700 CausalMutation CLINVAR

dbSNP: rs28730837
rs28730837
MPO
A 0.700 CausalMutation CLINVAR

dbSNP: rs536522394
rs536522394
MPO
G 0.700 CausalMutation CLINVAR