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: 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: 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: 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
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: rs2107545
rs2107545
MPO
0.925 0.160 17 58282757 upstream gene variant A/G snv 0.28
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2017 2017
dbSNP: rs2107545
rs2107545
MPO
0.925 0.160 17 58282757 upstream gene variant A/G snv 0.28
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2018 2018
dbSNP: rs2243828
rs2243828
MPO
0.925 0.080 17 58281523 upstream gene variant A/G;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2012 2012
dbSNP: rs2243828
rs2243828
MPO
0.925 0.080 17 58281523 upstream gene variant A/G;T snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs2333227
rs2333227
MPO
0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 1.000 3 2012 2018
dbSNP: rs2333227
rs2333227
MPO
0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 0.500 2 2008 2013
dbSNP: rs2333227
rs2333227
MPO
0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2012 2018
dbSNP: rs2333227
rs2333227
MPO
0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 0.500 2 2008 2013
dbSNP: rs2333227
rs2333227
MPO
0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2018 2018
dbSNP: rs2333227
rs2333227
MPO
0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2018 2018
dbSNP: rs2333227
rs2333227
MPO
0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2017 2017
dbSNP: rs2333227
rs2333227
MPO
0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.010 1.000 1 2018 2018
dbSNP: rs2333227
rs2333227
MPO
0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs2333227
rs2333227
MPO
0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2018 2018