DPEP1, dipeptidase 1, 1800

N. diseases: 100; N. variants: 14
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: rs154657
rs154657 		16 89641688 downstream gene variant G/A snv 0.33
CUI: C2242817
Disease: Homocysteine measurement
Homocysteine measurement 		0.800 1.000 1 2013 2013
dbSNP: rs1126464
rs1126464 		1.000 0.040 16 89637957 missense variant G/A;C snv 1.3E-05; 0.26
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 2 2016 2016
dbSNP: rs1126464
rs1126464 		1.000 0.040 16 89637957 missense variant G/A;C snv 1.3E-05; 0.26
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1126464
rs1126464 		1.000 0.040 16 89637957 missense variant G/A;C snv 1.3E-05; 0.26
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1126464
rs1126464 		1.000 0.040 16 89637957 missense variant G/A;C snv 1.3E-05; 0.26
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs12920969
rs12920969 		16 89633115 intron variant G/A snv 0.36
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs142226072
rs142226072 		1.000 0.040 16 89637551 splice region variant C/T snv 2.2E-04 3.6E-04
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs148240484
rs148240484 		1.000 0.080 16 89637333 missense variant G/A;C;T snv 5.3E-04; 3.9E-04; 4.0E-06
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs148240484
rs148240484 		1.000 0.080 16 89637333 missense variant G/A;C;T snv 5.3E-04; 3.9E-04; 4.0E-06
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs148240484
rs148240484 		1.000 0.080 16 89637333 missense variant G/A;C;T snv 5.3E-04; 3.9E-04; 4.0E-06
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs150320659
rs150320659 		16 89637345 missense variant C/G;T snv 4.0E-06; 1.8E-04
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs154656
rs154656 		16 89641595 downstream gene variant T/A snv 0.33
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs164741
rs164741 		16 89625890 intron variant A/G;T snv
CUI: C0018498
Disease: Hair Color
Hair Color 		0.700 1.000 1 2008 2008
dbSNP: rs164748
rs164748 		16 89641884 downstream gene variant C/G;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2016 2016
dbSNP: rs164748
rs164748 		16 89641884 downstream gene variant C/G;T snv
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs2460448
rs2460448 		16 89634473 intron variant G/A;C snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2460449
rs2460449 		16 89634339 intron variant G/A snv 0.34
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs460105
rs460105 		16 89615598 intron variant T/C snv 0.36
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2017 2017
dbSNP: rs460105
rs460105 		16 89615598 intron variant T/C snv 0.36
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs57856222
rs57856222 		16 89615782 intron variant C/T snv 6.8E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1043397364
rs1043397364 		1.000 0.080 16 89637349 missense variant G/A;T snv 2.8E-05; 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0