ACE, angiotensin I converting enzyme, 1636

N. diseases: 1082; N. variants: 82
Disease: Hypertensive disease ×
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: rs1267969615
rs1267969615 		0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.100 0.786 28 1997 2015
dbSNP: rs1415088003
rs1415088003 		0.827 0.160 17 63489038 synonymous variant C/T snv 4.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 2006 2016
dbSNP: rs4305
rs4305 		17 63480868 intron variant A/G snv 0.45
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 2011 2013
dbSNP: rs568401628
rs568401628 		0.882 0.120 17 63497280 missense variant C/T snv 4.5E-05 7.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 1999 2004
dbSNP: rs1042309696
rs1042309696 		17 63487006 synonymous variant T/C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1156835126
rs1156835126 		17 63477230 missense variant G/A snv 4.2E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs142677199
rs142677199 		0.882 0.040 17 63479897 missense variant G/A;T snv 3.2E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 1999 1999
dbSNP: rs1799752
rs1799752 		0.677 0.480 17 63488529 intron variant -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT delins
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 < 0.001 1 2019 2019
dbSNP: rs4291
rs4291 		0.724 0.400 17 63476833 upstream gene variant T/A;C snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4362
rs4362 		0.807 0.240 17 63496400 missense variant T/C;G snv 0.52; 1.2E-05 0.51
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4363
rs4363 		1.000 0.080 17 63497131 splice region variant G/A;C snv 0.52
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs553520266
rs553520266 		17 63479853 missense variant C/T snv 4.8E-05 2.1E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs746566272
rs746566272 		17 63484889 missense variant G/A snv 3.3E-05 7.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs755506668
rs755506668 		17 63496874 missense variant G/A;T snv 2.8E-05; 8.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs761401927
rs761401927 		0.882 0.040 17 63488704 missense variant G/A snv 9.1E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 1999 1999