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: rs4305
rs4305
ACE
17 63480868 intron variant A/G snv 0.45
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 1.000 2 2011 2013
dbSNP: rs1042309696
rs1042309696
ACE
17 63487006 synonymous variant T/C snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 1.000 1 2008 2008
dbSNP: rs1042309696
rs1042309696
ACE
17 63487006 synonymous variant T/C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2008 2008
dbSNP: rs1156835126
rs1156835126
ACE
17 63477230 missense variant G/A snv 4.2E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2010 2010
dbSNP: rs1181835738
rs1181835738
ACE
17 63490971 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.010 1.000 1 2009 2009
dbSNP: rs121912703
rs121912703
ACE
17 63496977 missense variant C/T snv 3.7E-05 4.9E-05
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.010 1.000 1 2006 2006
dbSNP: rs149155892
rs149155892
ACE
17 63498493 intron variant C/T snv 1.6E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs28730839
rs28730839
ACE
17 63483140 missense variant C/A;G snv 4.0E-06; 4.8E-04
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs28730839
rs28730839
ACE
17 63483140 missense variant C/A;G snv 4.0E-06; 4.8E-04
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4293
rs4293
ACE
17 63478305 non coding transcript exon variant G/A snv 0.45
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 1.000 1 2010 2010
dbSNP: rs4295
rs4295
ACE
17 63478937 intron variant C/G snv 0.61
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs4295
rs4295
ACE
17 63478937 intron variant C/G snv 0.61
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs4308
rs4308
ACE
17 63482264 intron variant A/G snv 0.71
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs4329
rs4329
ACE
17 63486097 intron variant A/C;G snv
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2011 2011
dbSNP: rs4329
rs4329
ACE
17 63486097 intron variant A/C;G snv
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2011 2011
dbSNP: rs4344
rs4344
ACE
17 63489363 intron variant G/A;C snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4344
rs4344
ACE
17 63489363 intron variant G/A;C snv
CUI: C0010200
Disease: Coughing
Coughing 		0.010 1.000 1 2011 2011
dbSNP: rs553520266
rs553520266
ACE
17 63479853 missense variant C/T snv 4.8E-05 2.1E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2010 2010
dbSNP: rs746566272
rs746566272
ACE
17 63484889 missense variant G/A snv 3.3E-05 7.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2010 2010
dbSNP: rs755506668
rs755506668
ACE
17 63496874 missense variant G/A;T snv 2.8E-05; 8.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2010 2010
dbSNP: rs759009903
rs759009903
ACE
17 63484413 missense variant C/G;T snv 1.6E-05
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		0.010 1.000 1 2002 2002
dbSNP: rs765803965
rs765803965
ACE
17 63480345 missense variant G/A snv 4.0E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.010 1.000 1 2008 2008
dbSNP: rs9896208
rs9896208
ACE
17 63498748 intron variant T/C snv 0.57
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 1.000 1 2005 2005
dbSNP: rs121912703
rs121912703
ACE
17 63496977 missense variant C/T snv 3.7E-05 4.9E-05
CUI: C1862874
Disease: ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE
ANGIOTENSIN I-CONVERTING ENZYME, BENIGN SERUM INCREASE 		0.700 0
dbSNP: rs12720742
rs12720742
ACE
1.000 0.040 17 63496923 missense variant C/G;T snv 2.4E-05; 3.2E-04
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.020 1.000 2 1998 2004