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: 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: 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: 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: rs35897051
rs35897051
MPO
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 		0.700 1.000 3 1981 2004
dbSNP: rs376919235
rs376919235
MPO
1.000 0.080 17 58279366 synonymous variant A/G snv 1.4E-05 7.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2005 2005
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: rs7208693
rs7208693
MPO
0.882 0.080 17 58280457 missense variant C/A;T snv 9.0E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 1.000 1 2006 2006
dbSNP: rs1351260902
rs1351260902
MPO
1.000 0.080 17 58279839 missense variant C/G;T snv
CUI: C0586354
Disease: Esophageal dysplasia
Esophageal dysplasia 		0.010 1.000 1 2008 2008
dbSNP: rs2333227
rs2333227
MPO
0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C2945759
Disease: aggressive cancer
aggressive cancer 		0.010 < 0.001 1 2008 2008
dbSNP: rs759684602
rs759684602
MPO
1.000 0.080 17 58279136 missense variant T/C snv 2.0E-05 7.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs767523236
rs767523236
MPO
0.925 0.040 17 58279033 missense variant T/C snv 4.1E-06 7.0E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.010 1.000 1 2009 2009
dbSNP: rs767523236
rs767523236
MPO
0.925 0.040 17 58279033 missense variant T/C snv 4.1E-06 7.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.010 1.000 1 2009 2009
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
dbSNP: rs376373278
rs376373278
MPO
0.882 0.120 17 58279015 missense variant G/A;C snv 4.2E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs972427414
rs972427414
MPO
0.882 0.120 17 58279379 missense variant A/G snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2011 2011
dbSNP: rs376373278
rs376373278
MPO
0.882 0.120 17 58279015 missense variant G/A;C snv 4.2E-06
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.020 1.000 2 2011 2012
dbSNP: rs376373278
rs376373278
MPO
0.882 0.120 17 58279015 missense variant G/A;C snv 4.2E-06
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		0.020 1.000 2 2011 2012
dbSNP: rs972427414
rs972427414
MPO
0.882 0.120 17 58279379 missense variant A/G snv
CUI: C1623038
Disease: Cirrhosis
Cirrhosis 		0.020 1.000 2 2011 2012