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: 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: 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
dbSNP: rs2333227
rs2333227
MPO
0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		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: C2945759
Disease: aggressive cancer
aggressive cancer 		0.010 < 0.001 1 2008 2008
dbSNP: rs2333227
rs2333227
MPO
0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.010 1.000 1 2014 2014
dbSNP: rs2333227
rs2333227
MPO
0.752 0.320 17 58281401 upstream gene variant C/T snv 0.24
CUI: C0302592
Disease: Cervix carcinoma
Cervix 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: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.010 1.000 1 2015 2015
dbSNP: rs34097845
rs34097845
MPO
1.000 0.080 17 58281068 upstream gene variant C/T snv 4.3E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 1.000 1 2017 2017
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: 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: rs7208693
rs7208693
MPO
0.882 0.080 17 58280457 missense variant C/A;T snv 9.0E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.010 1.000 1 2014 2014
dbSNP: rs7208693
rs7208693
MPO
0.882 0.080 17 58280457 missense variant C/A;T snv 9.0E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		0.010 1.000 1 2014 2014
dbSNP: rs7208693
rs7208693
MPO
0.882 0.080 17 58280457 missense variant C/A;T snv 9.0E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		0.010 1.000 1 2014 2014
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: 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