SP1, Sp1 transcription factor, 6667

N. diseases: 209; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3741651
rs3741651
Entrez Id: 6667
Gene Symbol: SP1
SP1
CUI: C0014772
Disease:
Red Blood Cell Count measurement
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7131938
rs7131938
Entrez Id: 6667
Gene Symbol: SP1
SP1
CUI: C0427460
Disease:
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7131938
rs7131938
Entrez Id: 6667
Gene Symbol: SP1
SP1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7134628
rs7134628
Entrez Id: 6667
Gene Symbol: SP1
SP1
CUI: C1305855
Disease:
Body mass index
A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs11170538
rs11170538
Entrez Id: 6667
Gene Symbol: SP1
SP1
CUI: C0392885
Disease:
High density lipoprotein measurement
T 0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
dbSNP: rs147124286
rs147124286
Entrez Id: 6667
Gene Symbol: SP1
SP1
CUI: C0038868
Disease:
Progressive supranuclear palsy
0.700 GeneticVariation GWASCAT Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases. 30089514 2018
dbSNP: rs2460882
rs2460882
Entrez Id: 6667
Gene Symbol: SP1
SP1
CUI: C0524587
Disease:
Mean Corpuscular Volume (result)
0.700 GeneticVariation GWASCAT Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. 29403010 2018
dbSNP: rs2446066
rs2446066
Entrez Id: 6667
Gene Symbol: SP1
SP1
CUI: C0014772
Disease:
Red Blood Cell Count measurement
T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs9739640
rs9739640
Entrez Id: 6667
Gene Symbol: SP1
SP1
CUI: C0206161
Disease:
Reticulocyte count (procedure)
G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs1353058818
rs1353058818
Entrez Id: 6667
Gene Symbol: SP1
SP1
CUI: C0349566
Disease:
Squamous cell carcinoma of tongue
0.010 GeneticVariation BEFREE The expression level of STAT3 protein in tumor tissues of patients with <i>STAT3</i> rs1053004 locus GG genotype was significantly higher than in patients with type GA, and it was the lowest in patients with type AA.<b>Conclusion:</b> Polymorphisms in the <i>SP1</i> rs1353058818 and <i>STAT3</i> rs1053004 loci are associated with the risk of human TSCC. 31270251 2019
dbSNP: rs1353058818
rs1353058818
Entrez Id: 6667
Gene Symbol: SP1
SP1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE The expression of SP1 protein in tumor tissues of the <i>SP1</i> rs1353058818 locus DD genotype was significantly higher than in tissues of the ID type, and in tissues of type II it was the lowest. 31270251 2019
dbSNP: rs1400106676
rs1400106676
Entrez Id: 6667
Gene Symbol: SP1
SP1
CUI: C0751955
Disease:
Brain Infarction
0.010 GeneticVariation BEFREE Comparison of allele frequencies between 1112 cases with brain infarction and age- and sex-matched control subjects of the same number found an SNP in the 5'-flanking region of angiotensin receptor like-1 (AGTRL1) gene (rs9943582, - 154G/A) to have a significant association with brain infarction [odds ratio = 1.30, 95% confidence interval (CI) = 1.14-1.47, P = 0.000066]. 17309882 2007
dbSNP: rs745579533
rs745579533
Entrez Id: 6667
Gene Symbol: SP1
SP1
CUI: C0037917
Disease:
Spina Bifida Cystica
0.010 GeneticVariation BEFREE The C677T allele of the methylenetetrahydrofolate reductase (MTHFR) gene and some other functional polymorphisms are risk factors for SB in some populations. 14735580 2004
dbSNP: rs745579533
rs745579533
Entrez Id: 6667
Gene Symbol: SP1
SP1
CUI: C0025312
Disease:
Meningomyelocele
0.010 GeneticVariation BEFREE The C677T allele of the methylenetetrahydrofolate reductase (MTHFR) gene and some other functional polymorphisms are risk factors for SB in some populations. 14735580 2004