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: 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: C0042834
Disease: Vital capacity
Vital capacity 		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: C0022573
Disease: Keratoconjunctivitis
Keratoconjunctivitis 		Eye Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2292305
rs2292305 		0.882 0.080 15 39588621 missense variant A/C;G snv 4.0E-06; 0.16
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs2664141
rs2664141 		1.000 0.080 15 39587316 intron variant C/A;G;T snv 4.2E-06; 0.29
CUI: C0024534
Disease: Malaria, Cerebral
Malaria, Cerebral 		Infections; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs753269867
rs753269867 		0.925 0.080 15 39582202 missense variant G/C snv 6.3E-05
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs753269867
rs753269867 		0.925 0.080 15 39582202 missense variant G/C snv 6.3E-05
CUI: C2363741
Disease: HIV-1 infection
HIV-1 infection 		0.010 1.000 1 2003 2003
dbSNP: rs747370442
rs747370442 		0.925 0.120 15 39584048 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1840572
Disease: HIP DYSPLASIA, BEUKES TYPE
HIP DYSPLASIA, BEUKES TYPE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs747370442
rs747370442 		0.925 0.120 15 39584048 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs747370442
rs747370442 		0.925 0.120 15 39584048 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0346010
Disease: Multiple fibrofolliculomas
Multiple fibrofolliculomas 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 2010 2010
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: 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: 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: rs3743125
rs3743125 		1.000 0.080 15 39595647 3 prime UTR variant G/A snv 0.14 0.12
CUI: C0024534
Disease: Malaria, Cerebral
Malaria, Cerebral 		Infections; Nervous System Diseases 0.010 1.000 1 2015 2015
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: 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