THBS2, thrombospondin 2, 7058

N. diseases: 149; N. variants: 13
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: rs113640408
rs113640408 		6 169244314 intron variant CACACACACACA/-;CA;CACA;CACACA;CACACACA;CACACACACA;CACACACACACACA;CACACACACACACACA;CACACACACACACACACA;CACACACACACACACACACA;CACACACACACACACACACACA;CACACACACACACACACACACACA;CACACACACACACACACACACACACA;CACACACACACACACACACACACACACA;CACACACACACACACACACACACACACACA delins
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.700 1.000 1 2019 2019
dbSNP: rs3252
rs3252 		6 169216002 3 prime UTR variant C/G;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3253
rs3253 		6 169216017 3 prime UTR variant C/T snv 0.38
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs73043857
rs73043857 		6 169224805 intron variant A/G snv 9.6E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9406328
rs9406328 		1.000 0.080 6 169234915 splice region variant G/A snv 0.37 0.31
CUI: C2676840
Disease: LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO
LUMBAR DISC HERNIATION, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs761646500
rs761646500 		0.925 0.080 6 169237763 missense variant C/G snv 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.020 1.000 2 2002 2015
dbSNP: rs761646500
rs761646500 		0.925 0.080 6 169237763 missense variant C/G snv 4.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2002 2019
dbSNP: rs148267594
rs148267594 		1.000 0.080 6 169248872 missense variant C/A;T snv 6.2E-04
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6422747
rs6422747 		1.000 0.120 6 169229688 intron variant G/A snv 0.61 0.68
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs6422747
rs6422747 		1.000 0.120 6 169229688 intron variant G/A snv 0.61 0.68
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs6422748
rs6422748 		1.000 0.120 6 169229815 intron variant G/C snv 0.65
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs6422748
rs6422748 		1.000 0.120 6 169229815 intron variant G/C snv 0.65
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs761646500
rs761646500 		0.925 0.080 6 169237763 missense variant C/G snv 4.0E-06
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs78602344
rs78602344 		1.000 0.040 6 169226486 intron variant T/C snv 6.4E-02
CUI: C0270549
Disease: Generalized Anxiety Disorder
Generalized Anxiety Disorder 		Mental Disorders 0.010 1.000 1 2017 2017
dbSNP: rs8089
rs8089 		0.851 0.080 6 169217631 splice region variant A/C snv 0.22
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs8089
rs8089 		0.851 0.080 6 169217631 splice region variant A/C snv 0.22
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs8089
rs8089 		0.851 0.080 6 169217631 splice region variant A/C snv 0.22
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs8089
rs8089 		0.851 0.080 6 169217631 splice region variant A/C snv 0.22
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs9406328
rs9406328 		1.000 0.080 6 169234915 splice region variant G/A snv 0.37 0.31
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs9505888
rs9505888 		1.000 0.080 6 169225779 intron variant A/G snv 0.57
CUI: C0151936
Disease: Disorder of tendon
Disorder of tendon 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs9505888
rs9505888 		1.000 0.080 6 169225779 intron variant A/G snv 0.57
CUI: C1568272
Disease: Tendinopathy
Tendinopathy 		Musculoskeletal Diseases; Wounds and Injuries 0.010 < 0.001 1 2014 2014
dbSNP: rs9766678
rs9766678 		6 169237816 intron variant G/A snv 0.61 0.61
CUI: C0037011
Disease: Shoulder Pain
Shoulder Pain 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2019 2019