MIA3, MIA SH3 domain ER export factor 3, 375056

N. diseases: 27; N. variants: 7
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: rs17465637
rs17465637
0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.840 1.000 7 2007 2013
dbSNP: rs17465637
rs17465637
0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.840 1.000 5 2008 2012
dbSNP: rs17465637
rs17465637
0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.750 1.000 6 2011 2019
dbSNP: rs67180937
rs67180937
1.000 0.040 1 222650401 intron variant T/C;G snv 0.64
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 2 2015 2017
dbSNP: rs17465982
rs17465982
1.000 0.040 1 222664597 intron variant G/A snv 0.57
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2133189
rs2133189
0.925 0.040 1 222641100 intron variant C/T snv 0.56
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2133189
rs2133189
0.925 0.040 1 222641100 intron variant C/T snv 0.56
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs2291832
rs2291832
1.000 0.040 1 222653139 intron variant G/A;C snv 0.64; 1.2E-05
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs35158675
rs35158675
1.000 0.040 1 222656208 intron variant G/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs35700460
rs35700460
1.000 0.080 1 222638065 intron variant A/G snv 0.57
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2015 2015
dbSNP: rs17465637
rs17465637
0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.030 1.000 3 2011 2013
dbSNP: rs17465637
rs17465637
0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
Cardiovascular Diseases 0.020 1.000 2 2012 2019
dbSNP: rs17465637
rs17465637
0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
Cardiovascular Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs17465637
rs17465637
0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06
CUI: C0018799
Disease: Heart Diseases
Heart Diseases
Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs17465637
rs17465637
0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
Cardiovascular Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs17465637
rs17465637
0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs17465637
rs17465637
0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias
Nutritional and Metabolic Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs17465637
rs17465637
0.790 0.200 1 222650187 intron variant A/C;G;T snv 0.64; 6.4E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2008 2008