THBS1, thrombospondin 1, 7057

N. diseases: 480; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1478604
rs1478604
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0202239
Disease:
Uric acid measurement (procedure)
T 0.700 GeneticVariation GWASCAT Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. 31578528 2019
dbSNP: rs2292305
rs2292305
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0042834
Disease:
Vital capacity
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C1956346
Disease:
Coronary Artery Disease
0.040 GeneticVariation BEFREE The THBS1 N700S polymorphism was associated with increased CAD risk, especially in Asian and European populations. 25976449 2015
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0027051
Disease:
Myocardial Infarction
0.040 GeneticVariation BEFREE Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombospondin-2 (rs8089) variants need not be considered a risk for coronary artery disease or myocardial infarction among South Indians. 21762961 2011
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C1956346
Disease:
Coronary Artery Disease
0.040 GeneticVariation BEFREE Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombospondin-2 (rs8089) variants need not be considered a risk for coronary artery disease or myocardial infarction among South Indians. 21762961 2011
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0027051
Disease:
Myocardial Infarction
0.040 GeneticVariation BEFREE In a large case-control study of 1425 individuals who survived a myocardial infarction prior to age 45, the N700S polymorphism was a significant risk factor for myocardial infarction in both homozygous (odds ratio [OR] 1.9, 95% confidence interval [CI] 1.1-3.3, P = .01) and heterozygous carriers of the S700 allele (OR 1.4, 95% CI 1.1-3.3, P = .01). 16684956 2006
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0027051
Disease:
Myocardial Infarction
0.040 GeneticVariation BEFREE Our study suggested that the TSP-1 N700S polymorphism was rare and unrelated to MI in the Chinese Han population. 15140581 2004
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C1956346
Disease:
Coronary Artery Disease
0.040 GeneticVariation BEFREE A single nucleotide polymorphism that substitutes a serine for an asparagine at residue 700 in the Ca2+-binding repeats of thrombospondin-1 is associated with familial premature coronary heart disease. 12643280 2003
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C1956346
Disease:
Coronary Artery Disease
0.040 GeneticVariation BEFREE We conclude that a relationship between the THBS-1 N700S polymorphism and premature CAD is unlikely. 12482844 2002
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0027051
Disease:
Myocardial Infarction
0.040 GeneticVariation BEFREE Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S), THBS-2 (T>G substitution in 3'-untranslated region), and THBS-4 (A387P) genes were proposed to modulate the risk of premature coronary artery disease (CAD) or myocardial infarction (MI). 12482844 2002
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.020 GeneticVariation BEFREE Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombospondin-2 (rs8089) variants need not be considered a risk for coronary artery disease or myocardial infarction among South Indians. 21762961 2011
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0010068
Disease:
Coronary heart disease
0.020 GeneticVariation BEFREE Our data suggests that the presence of thrombospondin-1 (rs2228262) and thrombospondin-2 (rs8089) variants need not be considered a risk for coronary artery disease or myocardial infarction among South Indians. 21762961 2011
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.020 GeneticVariation BEFREE A single nucleotide polymorphism that substitutes a serine for an asparagine at residue 700 in the Ca2+-binding repeats of thrombospondin-1 is associated with familial premature coronary heart disease. 12643280 2003
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0010068
Disease:
Coronary heart disease
0.020 GeneticVariation BEFREE A single nucleotide polymorphism that substitutes a serine for an asparagine at residue 700 in the Ca2+-binding repeats of thrombospondin-1 is associated with familial premature coronary heart disease. 12643280 2003
dbSNP: rs12912082
rs12912082
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0024534
Disease:
Malaria, Cerebral
0.010 GeneticVariation BEFREE The THBS1 haplotype CCCCA (rs1478604, rs7170682, rs2664141, rs12912082, rs3743125) was a risk factor in the endemic region (relative risk = 3.78) and an ESEL SNP (rs5368, His468Tyr) associated with cerebral malaria (CM) [CM vs. non-cerebral malaria (NCM), odds ratio (OR) = 2.23, p = 0.03]. 26194693 2015
dbSNP: rs1478604
rs1478604
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0024534
Disease:
Malaria, Cerebral
0.010 GeneticVariation BEFREE The THBS1 haplotype CCCCA (rs1478604, rs7170682, rs2664141, rs12912082, rs3743125) was a risk factor in the endemic region (relative risk = 3.78) and an ESEL SNP (rs5368, His468Tyr) associated with cerebral malaria (CM) [CM vs. non-cerebral malaria (NCM), odds ratio (OR) = 2.23, p = 0.03]. 26194693 2015
dbSNP: rs2664141
rs2664141
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0024534
Disease:
Malaria, Cerebral
0.010 GeneticVariation BEFREE The THBS1 haplotype CCCCA (rs1478604, rs7170682, rs2664141, rs12912082, rs3743125) was a risk factor in the endemic region (relative risk = 3.78) and an ESEL SNP (rs5368, His468Tyr) associated with cerebral malaria (CM) [CM vs. non-cerebral malaria (NCM), odds ratio (OR) = 2.23, p = 0.03]. 26194693 2015
dbSNP: rs3743125
rs3743125
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0024534
Disease:
Malaria, Cerebral
0.010 GeneticVariation BEFREE The THBS1 haplotype CCCCA (rs1478604, rs7170682, rs2664141, rs12912082, rs3743125) was a risk factor in the endemic region (relative risk = 3.78) and an ESEL SNP (rs5368, His468Tyr) associated with cerebral malaria (CM) [CM vs. non-cerebral malaria (NCM), odds ratio (OR) = 2.23, p = 0.03]. 26194693 2015
dbSNP: rs1478604
rs1478604
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C0022573
Disease:
Keratoconjunctivitis
0.010 GeneticVariation BEFREE Carriers of the rs1478604 minor allele expressed significantly reduced levels of thrombospondin 1 (TSP1) (P = 0.042) and increased levels of an inflammatory cytokine associated with keratoconjunctivitis, interleukin-1β (P = 0.025), in their ocular surface epithelial cells compared with homozygous major allele controls. 24679443 2014
dbSNP: rs1478604
rs1478604
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C1281914
Disease:
Corneal allograft rejection
0.010 GeneticVariation BEFREE The TSP-1 rs1478604 A SNP was associated significantly with an increased risk of corneal allograft rejection (odds ratio [OR], 1.58; 95% confidence interval [CI], 1.02-2.45; P = 0.04) and there was a trend toward the rs1478604, rs2228261, rs2228262 ACA haplotype increasing risk of rejection. 24618326 2014
dbSNP: rs2228261
rs2228261
Entrez Id: 7057
Gene Symbol: THBS1
THBS1
CUI: C1281914
Disease:
Corneal allograft rejection
0.010 GeneticVariation BEFREE The TSP-1 rs1478604 A SNP was associated significantly with an increased risk of corneal allograft rejection (odds ratio [OR], 1.58; 95% confidence interval [CI], 1.02-2.45; P = 0.04) and there was a trend toward the rs1478604, rs2228261, rs2228262 ACA haplotype increasing risk of rejection. 24618326 2014
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C1281914
Disease:
Corneal allograft rejection
0.010 GeneticVariation BEFREE The TSP-1 rs1478604 A SNP was associated significantly with an increased risk of corneal allograft rejection (odds ratio [OR], 1.58; 95% confidence interval [CI], 1.02-2.45; P = 0.04) and there was a trend toward the rs1478604, rs2228261, rs2228262 ACA haplotype increasing risk of rejection. 24618326 2014
dbSNP: rs2228262
rs2228262
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0022573
Disease:
Keratoconjunctivitis
0.010 GeneticVariation BEFREE Carriers of minor alleles of 3 SNPs each were found to be more susceptible to developing chronic keratoconjunctivitis (rs1478604: odds ratio [OR], 2.5; 95% confidence interval [CI], 1.41-4.47; P = 2.5 × 10(-3); rs2228262 and rs2292305: OR, 1.9; 95% CI, 1.05-3.51; P = 4.8 × 10(-2)). 24679443 2014
dbSNP: rs2292305
rs2292305
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0022573
Disease:
Keratoconjunctivitis
0.010 GeneticVariation BEFREE Carriers of minor alleles of 3 SNPs each were found to be more susceptible to developing chronic keratoconjunctivitis (rs1478604: odds ratio [OR], 2.5; 95% confidence interval [CI], 1.41-4.47; P = 2.5 × 10(-3); rs2228262 and rs2292305: OR, 1.9; 95% CI, 1.05-3.51; P = 4.8 × 10(-2)). 24679443 2014
dbSNP: rs2292305
rs2292305
Entrez Id: 7057;161835
Gene Symbol: THBS1;FSIP1
THBS1;FSIP1
CUI: C0004352
Disease:
Autistic Disorder
0.010 GeneticVariation BEFREE Among them, one common variant (c.1567A>G:p.T523A) was significantly associated with autism (P<0.05). 25304225 2014