ECE1, endothelin converting enzyme 1, 1889

N. diseases: 157; N. variants: 13
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: rs201385905
rs201385905 		1 21318845 intron variant -/G delins 8.7E-03
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs212524
rs212524 		1 21256818 intron variant T/C snv 0.67
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2014 2014
dbSNP: rs212526
rs212526 		1 21258448 intron variant T/C snv 0.68
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2019 2019
dbSNP: rs212526
rs212526 		1 21258448 intron variant T/C snv 0.68
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs213010
rs213010 		1 21312674 intron variant A/G snv 0.39
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs213024
rs213024 		1 21324171 intron variant T/C snv 0.47
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs2229450
rs2229450 		1 21247229 synonymous variant G/A;C snv 0.22
CUI: C0201850
Disease: Alkaline phosphatase measurement
Alkaline phosphatase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3026862
rs3026862 		1 21277894 intron variant C/G snv 2.9E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3026862
rs3026862 		1 21277894 intron variant C/G snv 2.9E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs74698898
rs74698898 		1 21306718 intron variant T/C snv 4.9E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs200894751
rs200894751 		1.000 0.080 1 21225411 missense variant G/A snv 2.5E-04 1.7E-04
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs3026906
rs3026906 		1.000 0.160 1 21220008 missense variant G/A snv 2.4E-04 4.0E-04
CUI: C3151237
Disease: Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction
Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs765763704
rs765763704 		1.000 0.080 1 21247317 missense variant A/C snv 4.0E-06
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs212528
rs212528 		0.925 0.040 1 21259168 intron variant T/C snv 0.12
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.020 1.000 2 2007 2014
dbSNP: rs212528
rs212528 		0.925 0.040 1 21259168 intron variant T/C snv 0.12
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs212528
rs212528 		0.925 0.040 1 21259168 intron variant T/C snv 0.12
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs213045
rs213045 		0.851 0.120 1 21290752 intron variant G/T snv 0.44
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs213045
rs213045 		0.851 0.120 1 21290752 intron variant G/T snv 0.44
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs213045
rs213045 		0.851 0.120 1 21290752 intron variant G/T snv 0.44
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs213045
rs213045 		0.851 0.120 1 21290752 intron variant G/T snv 0.44
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs213045
rs213045 		0.851 0.120 1 21290752 intron variant G/T snv 0.44
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012