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