MLXIPL, MLX interacting protein like, 51085

N. diseases: 165; N. variants: 29
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: rs12539160
rs12539160 		1.000 0.040 7 73606109 splice region variant C/A;T snv 2.8E-02 3.0E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs35493868
rs35493868 		1.000 0.040 7 73625076 upstream gene variant C/G;T snv
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3812316
rs3812316 		0.763 0.240 7 73606007 missense variant C/G snv 0.10 9.4E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3812316
rs3812316 		0.763 0.240 7 73606007 missense variant C/G snv 0.10 9.4E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3812316
rs3812316 		0.763 0.240 7 73606007 missense variant C/G snv 0.10 9.4E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3812316
rs3812316 		0.763 0.240 7 73606007 missense variant C/G snv 0.10 9.4E-02
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3812316
rs3812316 		0.763 0.240 7 73606007 missense variant C/G snv 0.10 9.4E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3812316
rs3812316 		0.763 0.240 7 73606007 missense variant C/G snv 0.10 9.4E-02
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3812316
rs3812316 		0.763 0.240 7 73606007 missense variant C/G snv 0.10 9.4E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3812316
rs3812316 		0.763 0.240 7 73606007 missense variant C/G snv 0.10 9.4E-02
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3812316
rs3812316 		0.763 0.240 7 73606007 missense variant C/G snv 0.10 9.4E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3812316
rs3812316 		0.763 0.240 7 73606007 missense variant C/G snv 0.10 9.4E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3812316
rs3812316 		0.763 0.240 7 73606007 missense variant C/G snv 0.10 9.4E-02
CUI: C0242231
Disease: Coronary Stenosis
Coronary Stenosis 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7800944
rs7800944 		0.882 0.160 7 73621527 intron variant T/C snv 0.28
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3812316
rs3812316 		0.763 0.240 7 73606007 missense variant C/G snv 0.10 9.4E-02
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.020 1.000 2 2014 2014
dbSNP: rs1051921
rs1051921 		0.925 0.120 7 73593613 3 prime UTR variant G/A snv 0.15
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 2 2019 2019
dbSNP: rs17145750
rs17145750 		0.925 0.120 7 73612048 intron variant C/A;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 2 2012 2012
dbSNP: rs55747707
rs55747707 		7 73623036 intron variant G/A snv 0.16
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 2 2019 2019
dbSNP: rs1051921
rs1051921 		0.925 0.120 7 73593613 3 prime UTR variant G/A snv 0.15
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1051921
rs1051921 		0.925 0.120 7 73593613 3 prime UTR variant G/A snv 0.15
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1051921
rs1051921 		0.925 0.120 7 73593613 3 prime UTR variant G/A snv 0.15
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1051921
rs1051921 		0.925 0.120 7 73593613 3 prime UTR variant G/A snv 0.15
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1051921
rs1051921 		0.925 0.120 7 73593613 3 prime UTR variant G/A snv 0.15
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1051921
rs1051921 		0.925 0.120 7 73593613 3 prime UTR variant G/A snv 0.15
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1051921
rs1051921 		0.925 0.120 7 73593613 3 prime UTR variant G/A snv 0.15
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2018 2018