ETV5, ETS variant transcription factor 5, 2119

N. diseases: 121; N. variants: 11
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: rs1516725
rs1516725 		0.925 0.120 3 186106215 intron variant T/C snv 0.86
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.810 1.000 2 2013 2019
dbSNP: rs1516725
rs1516725 		0.925 0.120 3 186106215 intron variant T/C snv 0.86
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 7 2013 2019
dbSNP: rs6809651
rs6809651 		3 186096853 intron variant G/A snv 0.14
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2017 2019
dbSNP: rs10513801
rs10513801 		3 186104564 intron variant T/G snv 9.2E-02
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs10513801
rs10513801 		3 186104564 intron variant T/G snv 9.2E-02
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs10513801
rs10513801 		3 186104564 intron variant T/G snv 9.2E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2016 2016
dbSNP: rs10937241
rs10937241 		3 186104985 non coding transcript exon variant A/C;G;T snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2019 2019
dbSNP: rs112545201
rs112545201 		3 186085743 intron variant C/T snv 0.14
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs112545201
rs112545201 		3 186085743 intron variant C/T snv 0.14
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs112545201
rs112545201 		3 186085743 intron variant C/T snv 0.14
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1516725
rs1516725 		0.925 0.120 3 186106215 intron variant T/C snv 0.86
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 1 2013 2013
dbSNP: rs1516725
rs1516725 		0.925 0.120 3 186106215 intron variant T/C snv 0.86
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure 		0.700 1.000 1 2013 2013
dbSNP: rs1516725
rs1516725 		0.925 0.120 3 186106215 intron variant T/C snv 0.86
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		0.700 1.000 1 2015 2015
dbSNP: rs1516725
rs1516725 		0.925 0.120 3 186106215 intron variant T/C snv 0.86
CUI: C0562350
Disease: Hip circumference
Hip circumference 		0.700 1.000 1 2015 2015
dbSNP: rs1516725
rs1516725 		0.925 0.120 3 186106215 intron variant T/C snv 0.86
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs201874364
rs201874364 		1.000 0.040 3 186065822 missense variant C/A;T snv 4.0E-06; 7.2E-05
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs201874364
rs201874364 		1.000 0.040 3 186065822 missense variant C/A;T snv 4.0E-06; 7.2E-05
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs201874364
rs201874364 		1.000 0.040 3 186065822 missense variant C/A;T snv 4.0E-06; 7.2E-05
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs201874364
rs201874364 		1.000 0.040 3 186065822 missense variant C/A;T snv 4.0E-06; 7.2E-05
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs4234589
rs4234589 		3 186101093 intron variant A/G snv 0.13
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs4234589
rs4234589 		3 186101093 intron variant A/G snv 0.13
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs6809651
rs6809651 		3 186096853 intron variant G/A snv 0.14
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
dbSNP: rs6809651
rs6809651 		3 186096853 intron variant G/A snv 0.14
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2017 2017
dbSNP: rs6809651
rs6809651 		3 186096853 intron variant G/A snv 0.14
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs73052033
rs73052033 		3 186110676 intron variant T/C snv 0.15
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019