ACE, angiotensin I converting enzyme, 1636

N. diseases: 1082; N. variants: 82
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1205538057
rs1205538057 		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 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0344911
Disease: Left ventricular dilatation
Left ventricular dilatation 		0.010 < 0.001 1 1996 1996
dbSNP: rs1267969615
rs1267969615 		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 		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 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C1096293
Disease: Macroangiopathy
Macroangiopathy 		0.010 1.000 1 2001 2001
dbSNP: rs149155892
rs149155892 		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 		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 		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: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs4295
rs4295 		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 		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 		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 		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 		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: rs4343
rs4343 		0.742 0.480 17 63488670 synonymous variant G/A snv 0.53
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2014 2014
dbSNP: rs4343
rs4343 		0.742 0.480 17 63488670 synonymous variant G/A snv 0.53
CUI: C4509226
Disease: Heart failure with preserved ejection fraction [HFpEF]
Heart failure with preserved ejection fraction [HFpEF] 		0.010 1.000 1 2017 2017
dbSNP: rs4344
rs4344 		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: rs4351
rs4351 		0.925 0.160 17 63492371 intron variant G/A snv 0.50
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs121912703
rs121912703 		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: rs776943620
rs776943620 		0.851 0.120 17 63477287 missense variant G/A snv 2.1E-05
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.020 1.000 2 2009 2013
dbSNP: rs776943620
rs776943620 		0.851 0.120 17 63477287 missense variant G/A snv 2.1E-05
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.020 1.000 2 2009 2013
dbSNP: rs1401663578
rs1401663578 		0.882 0.120 17 63483037 missense variant A/G snv 1.4E-05
CUI: C0003467
Disease: Anxiety
Anxiety 		Behavior and Behavior Mechanisms 0.010 1.000 1 2017 2017
dbSNP: rs143830698
rs143830698 		0.882 0.120 17 63488659 missense variant G/A snv 8.4E-05
CUI: C0011570
Disease: Mental Depression
Mental Depression 		Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs143830698
rs143830698 		0.882 0.120 17 63488659 missense variant G/A snv 8.4E-05
CUI: C0344315
Disease: Depressed mood
Depressed mood 		Behavior and Behavior Mechanisms 0.010 1.000 1 2013 2013
dbSNP: rs145579007
rs145579007 		0.925 0.080 17 63496503 missense variant G/A snv 1.0E-04 1.0E-04
CUI: C0038443
Disease: Stress, Psychological
Stress, Psychological 		Behavior and Behavior Mechanisms 0.010 1.000 1 2001 2001