ENPEP, glutamyl aminopeptidase, 2028

N. diseases: 117; N. variants: 10
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: rs10033366
rs10033366 		4 110409934 intron variant T/C snv 0.92
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2087160
rs2087160 		4 110413574 intron variant G/T snv 0.68
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2011 2011
dbSNP: rs2087160
rs2087160 		4 110413574 intron variant G/T snv 0.68
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		0.700 1.000 1 2011 2011
dbSNP: rs2881854
rs2881854 		4 110422107 intron variant C/A snv 0.83
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs2881854
rs2881854 		4 110422107 intron variant C/A snv 0.83
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs33966350
rs33966350 		4 110510288 stop gained G/A snv 7.3E-03 7.9E-03
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs4834497
rs4834497 		4 110439533 intron variant C/T snv 0.75
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs6533515
rs6533515 		4 110416708 non coding transcript exon variant A/G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs6815273
rs6815273 		4 110416322 non coding transcript exon variant G/A snv 0.32
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs6825911
rs6825911 		4 110460482 intron variant C/T snv 0.68
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs6825911
rs6825911 		4 110460482 intron variant C/T snv 0.68
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2011 2011
dbSNP: rs6825911
rs6825911 		4 110460482 intron variant C/T snv 0.68
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs7685862
rs7685862 		4 110467945 intron variant C/A snv 0.68
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs763348672
rs763348672 		1.000 0.080 4 110549757 missense variant T/C snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018