MPO, myeloperoxidase, 4353

N. diseases: 653; N. variants: 25
Disease: Myeloperoxidase Deficiency ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs119468010
rs119468010 		1.000 0.080 17 58272835 missense variant G/A snv 1.5E-03 1.7E-03
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 1 1996 1996
dbSNP: rs56378716
rs56378716 		1.000 0.080 17 58279141 missense variant A/G snv 1.0E-02 9.8E-03
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 1 1998 1998
dbSNP: rs78950939
rs78950939 		1.000 0.080 17 58279553 missense variant T/C snv 4.6E-04 5.0E-04
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs35897051
rs35897051 		1.000 0.080 17 58270865 splice acceptor variant T/G snv 4.4E-03 4.6E-03
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1981 2004
dbSNP: rs119469012
rs119469012 		1.000 0.080 17 58272825 missense variant A/C;G snv
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs119469013
rs119469013 		1.000 0.080 17 58273534 missense variant C/A;T snv 4.0E-06
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs119469014
rs119469014 		1.000 0.080 17 58273540 missense variant G/A;C snv 2.4E-05; 2.0E-05
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs28730837
rs28730837 		1.000 0.080 17 58278036 missense variant G/A snv 1.2E-02 1.2E-02
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs536522394
rs536522394 		1.000 0.080 17 58273467 frameshift variant TTGGGTTCCATGGG/-;TTGGGTTCCATGGGTTGGGTTCCATGGG delins 8.3E-04
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0