Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs78950939
rs78950939
MPO
1.000 0.080 17 58279553 missense variant T/C snv 4.6E-04 5.0E-04
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.800 0
dbSNP: rs119469012
rs119469012
MPO
1.000 0.080 17 58272825 missense variant A/C;G snv
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.700 0
dbSNP: rs119469013
rs119469013
MPO
1.000 0.080 17 58273534 missense variant C/A;T snv 4.0E-06
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.700 0
dbSNP: rs119469014
rs119469014
MPO
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 		0.700 0
dbSNP: rs28730837
rs28730837
MPO
1.000 0.080 17 58278036 missense variant G/A snv 1.2E-02 1.2E-02
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.700 0
dbSNP: rs536522394
rs536522394
MPO
1.000 0.080 17 58273467 frameshift variant TTGGGTTCCATGGG/-;TTGGGTTCCATGGGTTGGGTTCCATGGG delins 8.3E-04
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.700 0
dbSNP: rs762688992
rs762688992
MPO
1.000 0.080 17 58275567 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.700 0
dbSNP: rs119468010
rs119468010
MPO
1.000 0.080 17 58272835 missense variant G/A snv 1.5E-03 1.7E-03
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.810 1.000 1 1996 1996
dbSNP: rs56378716
rs56378716
MPO
1.000 0.080 17 58279141 missense variant A/G snv 1.0E-02 9.8E-03
CUI: C0398595
Disease: Myeloperoxidase Deficiency
Myeloperoxidase Deficiency 		0.810 1.000 1 1998 1998
dbSNP: rs28730837
rs28730837
MPO
1.000 0.080 17 58278036 missense variant G/A snv 1.2E-02 1.2E-02
CUI: C2698399
Disease: Myeloperoxidase Measurement
Myeloperoxidase Measurement 		0.700 1.000 1 2013 2013
dbSNP: rs34097845
rs34097845
MPO
1.000 0.080 17 58281068 upstream gene variant C/T snv 4.3E-02
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs34097845
rs34097845
MPO
1.000 0.080 17 58281068 upstream gene variant C/T snv 4.3E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs34097845
rs34097845
MPO
1.000 0.080 17 58281068 upstream gene variant C/T snv 4.3E-02
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs35897051
rs35897051
MPO
1.000 0.080 17 58270865 splice acceptor variant T/G snv 4.4E-03 4.6E-03
CUI: C2698399
Disease: Myeloperoxidase Measurement
Myeloperoxidase Measurement 		0.700 1.000 1 2013 2013
dbSNP: rs56378716
rs56378716
MPO
1.000 0.080 17 58279141 missense variant A/G snv 1.0E-02 9.8E-03
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs56378716
rs56378716
MPO
1.000 0.080 17 58279141 missense variant A/G snv 1.0E-02 9.8E-03
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs56378716
rs56378716
MPO
1.000 0.080 17 58279141 missense variant A/G snv 1.0E-02 9.8E-03
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs56378716
rs56378716
MPO
1.000 0.080 17 58279141 missense variant A/G snv 1.0E-02 9.8E-03
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs56378716
rs56378716
MPO
1.000 0.080 17 58279141 missense variant A/G snv 1.0E-02 9.8E-03
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs1195782955
rs1195782955
MPO
1.000 0.040 17 58279411 synonymous variant C/T snv 7.0E-06
CUI: C0042384
Disease: Vasculitis
Vasculitis 		0.010 1.000 1 2006 2006
dbSNP: rs1207692596
rs1207692596
MPO
0.925 0.080 17 58280438 missense variant G/A;T snv
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 < 0.001 1 2013 2013
dbSNP: rs1207692596
rs1207692596
MPO
0.925 0.080 17 58280438 missense variant G/A;T snv
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 1.000 1 2013 2013
dbSNP: rs1207692596
rs1207692596
MPO
0.925 0.080 17 58280438 missense variant G/A;T snv
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 < 0.001 1 2013 2013
dbSNP: rs1271546630
rs1271546630
MPO
1.000 0.120 17 58277848 missense variant G/A;C snv
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		0.010 1.000 1 2010 2010
dbSNP: rs1271546630
rs1271546630
MPO
1.000 0.120 17 58277848 missense variant G/A;C snv
CUI: C0151546
Disease: Oral Cavity Carcinoma
Oral Cavity Carcinoma 		0.010 1.000 1 2010 2010