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: rs16853722
rs16853722 		3 169432844 intron variant T/C snv 0.11
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.800 1.000 1 2012 2012
dbSNP: rs448378
rs448378 		1.000 0.040 3 169383111 intron variant G/A;C snv
CUI: C0373675
Disease: Magnesium measurement
Magnesium measurement 		0.800 1.000 1 2010 2010
dbSNP: rs784288
rs784288 		1.000 0.080 3 169253443 intron variant A/G;T snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 1 2013 2013
dbSNP: rs864309722
rs864309722 		1.000 3 169100904 missense variant T/C snv
CUI: C4225221
Disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 		0.800 1.000 1 2015 2015
dbSNP: rs864309723
rs864309723 		1.000 3 169100918 missense variant T/C snv
CUI: C4225221
Disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 		0.800 1.000 1 2015 2015
dbSNP: rs864309724
rs864309724 		1.000 3 169100922 missense variant G/A snv
CUI: C4225221
Disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2
RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 		0.800 1.000 1 2015 2015
dbSNP: rs6774494
rs6774494 		0.882 0.160 3 169364845 intron variant G/A snv 0.42
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.740 1.000 5 2010 2017
dbSNP: rs419076
rs419076 		3 169383098 intron variant T/A;C snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 4 2011 2018
dbSNP: rs419076
rs419076 		3 169383098 intron variant T/A;C snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 4 2011 2018
dbSNP: rs448378
rs448378 		1.000 0.040 3 169383111 intron variant G/A;C snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2009 2016
dbSNP: rs4955665
rs4955665 		3 169637231 intron variant T/C snv 0.42
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 2 2018 2018
dbSNP: rs6774494
rs6774494 		0.882 0.160 3 169364845 intron variant G/A snv 0.42
CUI: C0027439
Disease: Nasopharyngeal Neoplasms
Nasopharyngeal Neoplasms 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2010 2016
dbSNP: rs998749
rs998749 		3 169255014 intron variant A/G snv 0.40
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 2 2018 2019
dbSNP: rs10711289
rs10711289 		3 169450583 intron variant AAA/-;A;AA;AAAA;AAAAA delins
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs10936584
rs10936584 		3 169557953 intron variant G/C snv 0.16
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs11718956
rs11718956 		3 169640170 intron variant C/A;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs12491785
rs12491785 		3 169128913 intron variant C/T snv 0.54
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs12494190
rs12494190 		3 169231596 intron variant G/A snv 0.33
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs12632583
rs12632583 		1.000 0.040 3 169464399 intron variant A/G snv 4.1E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12634933
rs12634933 		3 169312191 intron variant A/G snv 8.1E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2015 2015
dbSNP: rs1290784
rs1290784 		3 169379112 intron variant C/A;T snv
CUI: C1305849
Disease: Diastolic blood pressure measurement
Diastolic blood pressure measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1290784
rs1290784 		3 169379112 intron variant C/A;T snv
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1290784
rs1290784 		3 169379112 intron variant C/A;T snv
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1290784
rs1290784 		3 169379112 intron variant C/A;T snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs1290784
rs1290784 		3 169379112 intron variant C/A;T snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018