GTF2I, general transcription factor IIi, 2969

N. diseases: 249; N. variants: 14
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs117026326
rs117026326
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C1527336
Disease:
Sjogren's Syndrome
T 0.800 GeneticVariation GWASCAT Identification of susceptibility gene associated with female primary Sjögren's syndrome in Han Chinese by genome-wide association study. 27503288 2016
dbSNP: rs117026326
rs117026326
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C1527336
Disease:
Sjogren's Syndrome
T 0.800 GeneticVariation GWASCAT A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23. 24097066 2013
dbSNP: rs117026326
rs117026326
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C1527336
Disease:
Sjogren's Syndrome
T 0.800 GeneticVariation GWASDB A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23. 24097066 2013
dbSNP: rs13238568
rs13238568
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I
CUI: C0427460
Disease:
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs13238568
rs13238568
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I
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: rs2527366
rs2527366
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I
CUI: C1305855
Disease:
Body mass index
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs35005436
rs35005436
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C1314691
Disease:
Age at menarche
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs36044436
rs36044436
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I
CUI: C0005823
Disease:
Blood Pressure
0.700 GeneticVariation GWASCAT Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis. 30940143 2019
dbSNP: rs36044436
rs36044436
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I
CUI: C0024117
Disease:
Chronic Obstructive Airway Disease
0.700 GeneticVariation GWASCAT Genetic overlap of chronic obstructive pulmonary disease and cardiovascular disease-related traits: a large-scale genome-wide cross-trait analysis. 30940143 2019
dbSNP: rs7794284
rs7794284
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I
CUI: C0007222
Disease:
Cardiovascular Diseases
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2465936
rs2465936
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C0596887
Disease:
mathematical ability
G 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs2718277
rs2718277
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C0596887
Disease:
mathematical ability
T 0.700 GeneticVariation GWASCAT Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. 30038396 2018
dbSNP: rs34324971
rs34324971
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C0428883
Disease:
Diastolic blood pressure
A 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
dbSNP: rs35005436
rs35005436
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C0004238
Disease:
Atrial Fibrillation
C 0.700 GeneticVariation GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
dbSNP: rs74910854
rs74910854
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C0004238
Disease:
Atrial Fibrillation
G 0.700 GeneticVariation GWASCAT Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
dbSNP: rs7795281
rs7795281
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C0201657
Disease:
C-reactive protein measurement
A 0.700 GeneticVariation GWASCAT Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders. 30388399 2018
dbSNP: rs6964833
rs6964833
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I
CUI: C1314691
Disease:
Age at menarche
T 0.700 GeneticVariation GWASCAT Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. 25231870 2014
dbSNP: rs117026326
rs117026326
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.040 GeneticVariation BEFREE Genetic variant rs117026326 upstream of the general transcription factor II-I (GTF2I) has been associated with primary Sjögren's syndrome, SLE and RA in East Asian populations. 31520790 2019
dbSNP: rs117026326
rs117026326
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.040 GeneticVariation BEFREE The relationship between gene polymorphism of rs117026326, rs73366469, and susceptibility, progression of SLE were analyzed.The present study provided evidence that rs117026326 and rs73366469 were both associated with SLE susceptibility (both C vs T: P < .001). 31374066 2019
dbSNP: rs117026326
rs117026326
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.040 GeneticVariation BEFREE Genome-wide association studies of systemic lupus erythematosus (SLE) in Chinese and Korean populations demonstrated strong association of single nucleotide polymorphisms (SNPs) located in the GTF2I-NCF1 region, rs73366469 (GTF2I), rs117026326 (GTF2I), rs80346167(GTF2IRD1) and rs201802880 (NCF1). 31705128 2019
dbSNP: rs117026326
rs117026326
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.040 GeneticVariation BEFREE This study demonstrates a significant association between SLE and the GTF2I rs117026326 T allele, GTF2IRD1 rs4717901 C allele. 26320362 2015
dbSNP: rs117026326
rs117026326
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C0151449
Disease:
Primary Sjögren's syndrome
0.020 GeneticVariation BEFREE Genetic variant rs117026326 upstream of the general transcription factor II-I (GTF2I) has been associated with primary Sjögren's syndrome, SLE and RA in East Asian populations. 31520790 2019
dbSNP: rs117026326
rs117026326
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C0027873
Disease:
Neuromyelitis Optica
0.020 GeneticVariation BEFREE In conclusion, the T allele of rs117026326 was associated with susceptibility to neuromyelitis optica spectrum disorders, and the CC genotype of rs73366469 conferred susceptibility to AQP4-IgG-seropositivity in Han Chinese patients. 30531019 2019
dbSNP: rs117026326
rs117026326
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C0027873
Disease:
Neuromyelitis Optica
0.020 GeneticVariation BEFREE We observed a significant genetic association between the variant rs117026326</span> and NMOSD (P = 1.09 × 10<sup>-11</sup>, OR = 2.535), however, the association with MS was not significant (P = .4289, OR = 1.129). 31520790 2019
dbSNP: rs117026326
rs117026326
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C0151449
Disease:
Primary Sjögren's syndrome
0.020 GeneticVariation BEFREE The combined analysis identified GTF2I at 7q11.23 (rs117026326: Pcombined = 1.31 × 10(-53), combined odds ratio (ORcombined) = 2.20) as a new susceptibility locus for primary Sjögren's syndrome. 24097066 2013