TNPO3, transportin 3, 23534

N. diseases: 66; N. variants: 25
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: rs10239340
rs10239340 		1.000 0.080 7 129028456 intron variant T/A;G snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 3 2008 2014
dbSNP: rs12531711
rs12531711 		0.827 0.200 7 128977412 intron variant A/C;G snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.800 1.000 3 2011 2017
dbSNP: rs10279821
rs10279821 		1.000 0.080 7 129043493 intron variant T/A;C snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs12155080
rs12155080 		7 129018685 intron variant G/C snv 0.59
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12531711
rs12531711 		0.827 0.200 7 128977412 intron variant A/C;G snv
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs12531711
rs12531711 		0.827 0.200 7 128977412 intron variant A/C;G snv
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs12531711
rs12531711 		0.827 0.200 7 128977412 intron variant A/C;G snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs12531711
rs12531711 		0.827 0.200 7 128977412 intron variant A/C;G snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs12534421
rs12534421 		1.000 0.040 7 128984019 intron variant C/A snv 9.0E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs12539476
rs12539476 		1.000 0.080 7 129017429 intron variant T/C snv 9.0E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs12539741
rs12539741 		1.000 0.080 7 128956751 intron variant C/T snv 9.0E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12706861
rs12706861 		1.000 0.080 7 128976528 intron variant C/T snv 9.0E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs13236009
rs13236009 		1.000 0.080 7 129023119 intron variant T/G snv 9.0E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs13238352
rs13238352 		0.827 0.240 7 129007888 intron variant C/T snv 9.1E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs13238352
rs13238352 		0.827 0.240 7 129007888 intron variant C/T snv 9.1E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs13238352
rs13238352 		0.827 0.240 7 129007888 intron variant C/T snv 9.1E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs13238352
rs13238352 		0.827 0.240 7 129007888 intron variant C/T snv 9.1E-02
CUI: C0027121
Disease: Myositis
Myositis 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs13238352
rs13238352 		0.827 0.240 7 129007888 intron variant C/T snv 9.1E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs17339836
rs17339836 		1.000 0.200 7 129041008 intron variant C/T snv 9.0E-02
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs35188261
rs35188261 		1.000 0.080 7 129043485 intron variant G/A snv 9.0E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs35234849
rs35234849 		1.000 0.080 7 129008899 intron variant T/C snv 9.0E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs36073657
rs36073657 		1.000 0.040 7 129011468 intron variant C/T snv 9.0E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs62478615
rs62478615 		1.000 0.040 7 129044262 intron variant G/C snv 9.0E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2014 2014
dbSNP: rs6961014
rs6961014 		7 129052656 intron variant C/G;T snv
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2019 2019
dbSNP: rs7789423
rs7789423 		1.000 0.080 7 128981150 intron variant A/G snv 0.64
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2014 2014