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: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2020 2020
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2020 2020
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.030 1.000 3 2003 2019
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: C0410158
Disease: Muscle damage
Muscle damage 		0.010 1.000 1 2019 2019
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2018 2018
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: 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: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		0.010 1.000 1 2017 2017
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		0.010 1.000 1 2017 2017
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.100 0.786 28 1997 2015
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C3887499
Disease: Renal cyst
Renal cyst 		0.010 1.000 1 2015 2015
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0020428
Disease: Hyperaldosteronism
Hyperaldosteronism 		0.010 1.000 1 2015 2015
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C1277187
Disease: Left ventricular systolic dysfunction
Left ventricular systolic dysfunction 		0.010 1.000 1 2015 2015
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.100 0.846 13 1994 2014
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.080 1.000 8 1999 2014
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		0.070 0.714 7 1999 2014
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.070 0.714 7 1999 2014
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0152451
Disease: Chronic glomerulonephritis
Chronic glomerulonephritis 		0.010 1.000 1 2014 2014
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		0.030 0.667 3 2006 2013
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		0.010 1.000 1 2013 2013
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		0.030 1.000 3 2004 2012
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: C0598428
Disease: genetic hypertension
genetic hypertension 		0.010 1.000 1 2012 2012
dbSNP: rs1267969615
rs1267969615
ACE
0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.060 0.833 6 1999 2011