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: 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: 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: 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
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: C1832588
Disease:
Chromosome 11p11.2 Deletion Syndrome
0.010 GeneticVariation BEFREE We identified rs117026326 on GTF2I with GWAS significance (P = 1.10 × 10<sup>-15</sup>) and rs13079920 on RBMS3 with suggestive significance (P = 2.90 × 10<sup>-5</sup>) associating with PSS in women. 27503288 2016
dbSNP: rs117026326
rs117026326
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.010 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: C1849193
Disease:
PEELING SKIN SYNDROME
0.010 GeneticVariation BEFREE We identified rs117026326 on GTF2I with GWAS significance (P = 1.10 × 10<sup>-15</sup>) and rs13079920 on RBMS3 with suggestive significance (P = 2.90 × 10<sup>-5</sup>) associating with PSS in women. 27503288 2016
dbSNP: rs117026326
rs117026326
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C0026769
Disease:
Multiple Sclerosis
0.010 GeneticVariation BEFREE We observed a significant genetic association between the variant rs117026326 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: C0036421
Disease:
Systemic Scleroderma
0.010 GeneticVariation BEFREE We identified rs117026326 on GTF2I with GWAS significance (P = 1.10 × 10<sup>-15</sup>) and rs13079920 on RBMS3 with suggestive significance (P = 2.90 × 10<sup>-5</sup>) associating with PSS in women. 27503288 2016
dbSNP: rs117026326
rs117026326
Entrez Id: 2969;101926943
Gene Symbol: GTF2I;LOC101926943
GTF2I;LOC101926943
CUI: C0024143
Disease:
Lupus Nephritis
0.010 GeneticVariation BEFREE Patients carrying genotype TT of rs117026326 had lower 24-hour urinary total protein (24 hours UTP, g/24 hours), 24-hour urinary protein level (g/L·24 hours), lower frequency of the proteinuria and lupus nephritis (LN). 31374066 2019
dbSNP: rs13227433
rs13227433
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I
CUI: C0424166
Disease:
Social Anxiety
0.010 GeneticVariation BEFREE The GTF2I rs13227433 AA genotype, previously associated with lower social anxiety, predicted decreased threat-related amygdala reactivity. 26853120 2017
dbSNP: rs2527367
rs2527367
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I
CUI: C1279420
Disease:
Anxiety neurosis (finding)
0.010 GeneticVariation BEFREE Because of this recent preclinical and clinical identification of a genetic influence on anxiety, we examined whether sequence variation in GTF2I, specifically the single-nucleotide polymorphism rs2527367, interacts with trait and state anxiety to collectively impact neural response to anxiety-laden social stimuli. 26285132 2015
dbSNP: rs2527367
rs2527367
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I
CUI: C0700613
Disease:
Anxiety state
0.010 GeneticVariation BEFREE Because of this recent preclinical and clinical identification of a genetic influence on anxiety, we examined whether sequence variation in GTF2I, specifically the single-nucleotide polymorphism rs2527367, interacts with trait and state anxiety to collectively impact neural response to anxiety-laden social stimuli. 26285132 2015
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 GWASCAT Identification of susceptibility gene associated with female primary Sjögren's syndrome in Han Chinese by genome-wide association study. 27503288 2016
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: 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: 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: 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