MECOM, MDS1 and EVI1 complex locus, 2122

N. diseases: 191; N. variants: 57
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: rs1290784
rs1290784 		3 169379112 intron variant C/A;T snv
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs1290786
rs1290786 		3 169379593 intron variant C/T snv 0.42
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs1290790
rs1290790 		3 169373781 intron variant A/G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs1290790
rs1290790 		3 169373781 intron variant A/G;T snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1343040
rs1343040 		3 169468505 intron variant G/A snv 0.36
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs1344555
rs1344555 		3 169582431 intron variant C/A;G;T snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2011 2011
dbSNP: rs1344555
rs1344555 		3 169582431 intron variant C/A;G;T snv
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.700 1.000 1 2011 2011
dbSNP: rs1344555
rs1344555 		3 169582431 intron variant C/A;G;T snv
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		0.700 1.000 1 2011 2011
dbSNP: rs1344555
rs1344555 		3 169582431 intron variant C/A;G;T snv
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.700 1.000 1 2011 2011
dbSNP: rs142436749
rs142436749 		1.000 0.080 3 169375312 intron variant A/G snv 7.7E-03
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs16853173
rs16853173 		3 169115047 intron variant C/T snv 6.7E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs16853173
rs16853173 		3 169115047 intron variant C/T snv 6.7E-02
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs16853540
rs16853540 		3 169343279 intron variant G/A snv 2.2E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs16853540
rs16853540 		3 169343279 intron variant G/A snv 2.2E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs16853540
rs16853540 		3 169343279 intron variant G/A snv 2.2E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs16853637
rs16853637 		3 169392231 intron variant G/A snv 0.10
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2019 2019
dbSNP: rs16853722
rs16853722 		3 169432844 intron variant T/C snv 0.11
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs1918973
rs1918973 		3 169447385 intron variant A/G snv 0.57
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs1918973
rs1918973 		3 169447385 intron variant A/G snv 0.57
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1918974
rs1918974 		1.000 0.040 3 169448100 intron variant C/T snv 0.57
CUI: C1305849
Disease: Diastolic blood pressure measurement
Diastolic blood pressure measurement 		0.700 1.000 1 2009 2009
dbSNP: rs1918974
rs1918974 		1.000 0.040 3 169448100 intron variant C/T snv 0.57
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1918974
rs1918974 		1.000 0.040 3 169448100 intron variant C/T snv 0.57
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2009 2009
dbSNP: rs1918976
rs1918976 		1.000 0.040 3 169466635 intron variant C/T snv 1.5E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1997280
rs1997280 		3 169520227 intron variant T/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2014590
rs2014590 		3 169428709 intron variant C/T snv 0.53
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.700 1.000 1 2018 2018