GTF2I, general transcription factor IIi, 2969

N. diseases: 249; N. variants: 14
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: rs74910854
rs74910854 		1.000 0.080 7 74696373 intron variant A/G snv 5.5E-02
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs34324971
rs34324971 		7 74693042 intron variant A/G;T snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs35005436
rs35005436 		1.000 0.080 7 74720592 intron variant C/A;G;T snv
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs35005436
rs35005436 		1.000 0.080 7 74720592 intron variant C/A;G;T snv
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs36044436
rs36044436 		1.000 0.040 7 74675495 intron variant C/A;G;T snv
CUI: C0005823
Disease: Blood Pressure
Blood Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs36044436
rs36044436 		1.000 0.040 7 74675495 intron variant C/A;G;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs117026326
rs117026326 		0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.040 1.000 4 2015 2019
dbSNP: rs117026326
rs117026326 		0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.020 1.000 2 2019 2019
dbSNP: rs117026326
rs117026326 		0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.020 1.000 2 2013 2019
dbSNP: rs117026326
rs117026326 		0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.800 1.000 2 2013 2016
dbSNP: rs117026326
rs117026326 		0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs117026326
rs117026326 		0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs117026326
rs117026326 		0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02
CUI: C1849193
Disease: PEELING SKIN SYNDROME
PEELING SKIN SYNDROME 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs117026326
rs117026326 		0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs117026326
rs117026326 		0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs117026326
rs117026326 		0.752 0.440 7 74711703 intron variant C/T snv 1.3E-02
CUI: C1832588
Disease: Chromosome 11p11.2 Deletion Syndrome
Chromosome 11p11.2 Deletion Syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2527367
rs2527367 		0.925 0.080 7 74684804 5 prime UTR variant C/T snv 0.59
CUI: C0700613
Disease: Anxiety state
Anxiety state 		Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015
dbSNP: rs2527367
rs2527367 		0.925 0.080 7 74684804 5 prime UTR variant C/T snv 0.59
CUI: C1279420
Disease: Anxiety neurosis (finding)
Anxiety neurosis (finding) 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs2718277
rs2718277 		7 74719610 intron variant C/T snv 0.17
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs6964833
rs6964833 		7 74687575 intron variant C/T snv 0.78
CUI: C1314691
Disease: Age at menarche
Age at menarche 		Behavior and Behavior Mechanisms 0.700 1.000 1 2014 2014
dbSNP: rs2527366
rs2527366 		7 74684615 intron variant G/A snv 0.59
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs7794284
rs7794284 		7 74683722 intron variant G/A snv 0.80
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs7795281
rs7795281 		7 74708523 intron variant G/A snv 0.79
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs13238568
rs13238568 		7 74662156 intron variant G/A;C snv
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs13238568
rs13238568 		7 74662156 intron variant G/A;C snv
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019