THBS1, thrombospondin 1, 7057

N. diseases: 480; N. variants: 10
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: rs1478604
rs1478604 		0.807 0.240 15 39581120 5 prime UTR variant T/C snv 0.40
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs2292305
rs2292305 		0.882 0.080 15 39588621 missense variant A/C;G snv 4.0E-06; 0.16
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs2228262
rs2228262 		0.763 0.200 15 39589977 missense variant A/G snv 7.9E-02 8.0E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.040 0.750 4 2002 2015
dbSNP: rs2228262
rs2228262 		0.763 0.200 15 39589977 missense variant A/G snv 7.9E-02 8.0E-02
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.040 0.750 4 2002 2011
dbSNP: rs2228262
rs2228262 		0.763 0.200 15 39589977 missense variant A/G snv 7.9E-02 8.0E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 0.500 2 2003 2011
dbSNP: rs2228262
rs2228262 		0.763 0.200 15 39589977 missense variant A/G snv 7.9E-02 8.0E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.020 0.500 2 2003 2011
dbSNP: rs12912082
rs12912082 		1.000 0.080 15 39590289 intron variant C/T snv 0.12
CUI: C0024534
Disease: Malaria, Cerebral
Malaria, Cerebral 		Infections; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1478604
rs1478604 		0.807 0.240 15 39581120 5 prime UTR variant T/C snv 0.40
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1478604
rs1478604 		0.807 0.240 15 39581120 5 prime UTR variant T/C snv 0.40
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2012 2012
dbSNP: rs1478604
rs1478604 		0.807 0.240 15 39581120 5 prime UTR variant T/C snv 0.40
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1478604
rs1478604 		0.807 0.240 15 39581120 5 prime UTR variant T/C snv 0.40
CUI: C0022573
Disease: Keratoconjunctivitis
Keratoconjunctivitis 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1478604
rs1478604 		0.807 0.240 15 39581120 5 prime UTR variant T/C snv 0.40
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1478604
rs1478604 		0.807 0.240 15 39581120 5 prime UTR variant T/C snv 0.40
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1478604
rs1478604 		0.807 0.240 15 39581120 5 prime UTR variant T/C snv 0.40
CUI: C0024534
Disease: Malaria, Cerebral
Malaria, Cerebral 		Infections; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1478604
rs1478604 		0.807 0.240 15 39581120 5 prime UTR variant T/C snv 0.40
CUI: C1281914
Disease: Corneal allograft rejection
Corneal allograft rejection 		0.010 1.000 1 2014 2014
dbSNP: rs2228261
rs2228261 		0.925 0.040 15 39588157 synonymous variant C/T snv 0.16 0.21
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs2228261
rs2228261 		0.925 0.040 15 39588157 synonymous variant C/T snv 0.16 0.21
CUI: C1281914
Disease: Corneal allograft rejection
Corneal allograft rejection 		0.010 1.000 1 2014 2014
dbSNP: rs2228262
rs2228262 		0.763 0.200 15 39589977 missense variant A/G snv 7.9E-02 8.0E-02
CUI: C0022573
Disease: Keratoconjunctivitis
Keratoconjunctivitis 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2228262
rs2228262 		0.763 0.200 15 39589977 missense variant A/G snv 7.9E-02 8.0E-02
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2002 2002
dbSNP: rs2228262
rs2228262 		0.763 0.200 15 39589977 missense variant A/G snv 7.9E-02 8.0E-02
CUI: C1281914
Disease: Corneal allograft rejection
Corneal allograft rejection 		0.010 1.000 1 2014 2014
dbSNP: rs2228262
rs2228262 		0.763 0.200 15 39589977 missense variant A/G snv 7.9E-02 8.0E-02
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2228262
rs2228262 		0.763 0.200 15 39589977 missense variant A/G snv 7.9E-02 8.0E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2007 2007
dbSNP: rs2228262
rs2228262 		0.763 0.200 15 39589977 missense variant A/G snv 7.9E-02 8.0E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2003 2003
dbSNP: rs2292305
rs2292305 		0.882 0.080 15 39588621 missense variant A/C;G snv 4.0E-06; 0.16
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs2292305
rs2292305 		0.882 0.080 15 39588621 missense variant A/C;G snv 4.0E-06; 0.16
CUI: C0022573
Disease: Keratoconjunctivitis
Keratoconjunctivitis 		Eye Diseases 0.010 1.000 1 2014 2014