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: rs762890235
rs762890235
ACE2
0.827 0.240 X 15578220 missense variant G/T snv 3.8E-05 9.5E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2006 2006
dbSNP: rs2106809
rs2106809
ACE2
0.827 0.120 X 15599938 intron variant A/G snv 0.19
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.020 1.000 2 2007 2016
dbSNP: rs2106809
rs2106809
ACE2
0.827 0.120 X 15599938 intron variant A/G snv 0.19
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 1.000 1 2008 2008
dbSNP: rs6632677
rs6632677
ACE2
0.851 0.120 X 15596749 intron variant G/C snv 5.0E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 1.000 1 2008 2008
dbSNP: rs762890235
rs762890235
ACE2
0.827 0.240 X 15578220 missense variant G/T snv 3.8E-05 9.5E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2008 2008
dbSNP: rs2285666
rs2285666
ACE2
0.925 0.160 X 15592225 splice region variant C/T snv 6.2E-06; 0.28 0.23
CUI: C0544618
Disease: Orthostatic hypertension
Orthostatic hypertension 		0.010 1.000 1 2009 2009
dbSNP: rs2285666
rs2285666
ACE2
0.925 0.160 X 15592225 splice region variant C/T snv 6.2E-06; 0.28 0.23
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		0.020 1.000 2 2012 2018
dbSNP: rs4646188
rs4646188
ACE2
0.925 0.120 X 15583220 intron variant A/G snv 9.1E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 1.000 2 2012 2018
dbSNP: rs1978124
rs1978124
ACE2
X 15599940 intron variant T/A;C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2012 2012
dbSNP: rs2074192
rs2074192
ACE2
0.827 0.160 X 15564667 intron variant C/T snv 0.40
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2012 2012
dbSNP: rs2285666
rs2285666
ACE2
0.925 0.160 X 15592225 splice region variant C/T snv 6.2E-06; 0.28 0.23
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2012 2012
dbSNP: rs4240157
rs4240157
ACE2
0.925 0.080 X 15568841 intron variant C/T snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2012 2012
dbSNP: rs4646188
rs4646188
ACE2
0.925 0.120 X 15583220 intron variant A/G snv 9.1E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 1.000 1 2012 2012
dbSNP: rs762890235
rs762890235
ACE2
0.827 0.240 X 15578220 missense variant G/T snv 3.8E-05 9.5E-06
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		0.010 1.000 1 2012 2012
dbSNP: rs1514280
rs1514280
ACE2
1.000 X 15568325 intron variant A/G snv
CUI: C0749263
Disease: temporal pain
temporal pain 		0.010 1.000 1 2013 2013
dbSNP: rs1514280
rs1514280
ACE2
1.000 X 15568325 intron variant A/G snv
CUI: C0233397
Disease: Psychological symptom
Psychological symptom 		0.010 1.000 1 2013 2013
dbSNP: rs1514280
rs1514280
ACE2
1.000 X 15568325 intron variant A/G snv
CUI: C4531100
Disease: Negative affectivity
Negative affectivity 		0.010 1.000 1 2013 2013
dbSNP: rs2106809
rs2106809
ACE2
0.827 0.120 X 15599938 intron variant A/G snv 0.19
CUI: C0741923
Disease: cardiac event
cardiac event 		0.010 1.000 1 2013 2013
dbSNP: rs2106809
rs2106809
ACE2
0.827 0.120 X 15599938 intron variant A/G snv 0.19
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2013 2013
dbSNP: rs2106809
rs2106809
ACE2
0.827 0.120 X 15599938 intron variant A/G snv 0.19
CUI: C0340489
Disease: Lone atrial fibrillation
Lone atrial fibrillation 		0.010 1.000 1 2013 2013
dbSNP: rs4646156
rs4646156
ACE2
X 15578920 intron variant A/T snv
CUI: C0002962
Disease: Angina Pectoris
Angina Pectoris 		0.010 1.000 1 2013 2013
dbSNP: rs762890235
rs762890235
ACE2
0.827 0.240 X 15578220 missense variant G/T snv 3.8E-05 9.5E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2013 2013
dbSNP: rs762890235
rs762890235
ACE2
0.827 0.240 X 15578220 missense variant G/T snv 3.8E-05 9.5E-06
CUI: C0028754
Disease: Obesity
Obesity 		0.010 1.000 1 2013 2013
dbSNP: rs2106809
rs2106809
ACE2
0.827 0.120 X 15599938 intron variant A/G snv 0.19
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		0.040 1.000 4 2014 2019
dbSNP: rs16979956
rs16979956
BMX ; ACE2
X 15525068 intron variant C/T snv 4.0E-04
CUI: C0012833
Disease: Dizziness
Dizziness 		0.010 1.000 1 2014 2014