Source: BEFREE

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: rs1205538057
rs1205538057
ACE
0.827 0.200 17 63483937 missense variant A/G snv 4.0E-06
CUI: C4728082
Disease: Severe hypoglycaemia
Severe hypoglycaemia 		0.020 1.000 2 2008 2009
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2011 2011
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2011 2011
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.020 1.000 2 2012 2019
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C4551858
Disease: Vesicoureteral Reflux 1
Vesicoureteral Reflux 1 		0.020 1.000 2 2002 2009
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0001206
Disease: Acromegaly
Acromegaly 		0.020 1.000 2 2011 2017
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.020 0.500 2 1997 2007
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.020 1.000 2 2000 2006
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.020 < 0.001 2 1997 1999
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0013537
Disease: Eclampsia
Eclampsia 		0.020 1.000 2 2007 2011
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0028754
Disease: Obesity
Obesity 		0.020 1.000 2 2002 2012
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.020 1.000 2 2000 2001
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.020 1.000 2 2013 2017
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
Polycystic Kidney, Autosomal Dominant 		0.020 1.000 2 1997 2000
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
dbSNP: rs1415088003
rs1415088003
ACE
0.827 0.160 17 63489038 synonymous variant C/T snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 1.000 2 2006 2016
dbSNP: rs1415088003
rs1415088003
ACE
0.827 0.160 17 63489038 synonymous variant C/T snv 4.0E-06
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		0.020 1.000 2 2010 2016
dbSNP: rs1799752
rs1799752
ACE
0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		0.020 1.000 2 2007 2009
dbSNP: rs1799752
rs1799752
ACE
0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.020 1.000 2 2009 2016
dbSNP: rs1799752
rs1799752
ACE
0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.020 1.000 2 2010 2016
dbSNP: rs4291
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.020 1.000 2 2008 2009
dbSNP: rs4291
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.020 1.000 2 2006 2012
dbSNP: rs4291
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0424295
Disease: Hyperactive behavior
Hyperactive behavior 		0.020 1.000 2 2006 2012
dbSNP: rs4291
rs4291
ACE
0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.020 1.000 2 2006 2009
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