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: rs2014590
rs2014590 		3 169428709 intron variant C/T snv 0.53
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs2421648
rs2421648 		3 169411863 intron variant T/C snv 0.57
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs34781085
rs34781085 		3 169646811 intron variant T/C snv 0.29
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs3817581
rs3817581 		1.000 0.040 3 169463794 intron variant C/T snv 0.45
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs419076
rs419076 		3 169383098 intron variant T/A;C snv
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.700 1.000 1 2011 2011
dbSNP: rs419076
rs419076 		3 169383098 intron variant T/A;C snv
CUI: C1305849
Disease: Diastolic blood pressure measurement
Diastolic blood pressure measurement 		0.700 1.000 1 2011 2011
dbSNP: rs419076
rs419076 		3 169383098 intron variant T/A;C snv
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2011 2011
dbSNP: rs419076
rs419076 		3 169383098 intron variant T/A;C snv
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2011 2011
dbSNP: rs448378
rs448378 		1.000 0.040 3 169383111 intron variant G/A;C snv
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2016 2016
dbSNP: rs448378
rs448378 		1.000 0.040 3 169383111 intron variant G/A;C snv
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.700 1.000 1 2009 2009
dbSNP: rs448378
rs448378 		1.000 0.040 3 169383111 intron variant G/A;C snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4955659
rs4955659 		1.000 0.040 3 169453830 intron variant A/T snv 4.1E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs55641330
rs55641330 		3 169507902 intron variant T/C snv 0.17
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs62294340
rs62294340 		3 169437688 intron variant G/A snv 0.32
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs6770911
rs6770911 		3 169577976 intron variant A/C;G;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs6770911
rs6770911 		3 169577976 intron variant A/C;G;T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs6779380
rs6779380 		3 169394127 intron variant C/T snv 0.57
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2016 2016
dbSNP: rs6779380
rs6779380 		3 169394127 intron variant C/T snv 0.57
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2016 2016
dbSNP: rs73174306
rs73174306 		3 169476456 intron variant A/C;G;T snv 2.8E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs73174309
rs73174309 		3 169477878 intron variant C/T snv 0.20
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs73174345
rs73174345 		1.000 0.040 3 169535095 intron variant T/G snv 7.9E-02
CUI: C0017601
Disease: Glaucoma
Glaucoma 		Eye Diseases 0.700 1.000 1 2018 2018
dbSNP: rs75193859
rs75193859 		3 169328749 intron variant G/A snv 2.8E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs76112240
rs76112240 		3 169418126 intron variant A/C snv 0.12
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs76272256
rs76272256 		3 169170324 intron variant C/T snv 0.14
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs76272256
rs76272256 		3 169170324 intron variant C/T snv 0.14
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2019 2019