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: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.830 1.000 7 2008 2016
dbSNP: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.820 1.000 4 2010 2016
dbSNP: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.810 1.000 5 2010 2019
dbSNP: rs13239597
rs13239597 		0.882 0.080 7 129055929 non coding transcript exon variant C/A snv 9.0E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.810 1.000 2 2013 2020
dbSNP: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 5 2009 2015
dbSNP: rs587777431
rs587777431 		1.000 0.120 7 128970293 missense variant C/G;T snv 4.1E-05
CUI: C1842062
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 5 2013 2019
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: 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: 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: rs13239597
rs13239597 		0.882 0.080 7 129055929 non coding transcript exon variant C/A snv 9.0E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.710 1.000 2 2013 2020
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: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 2 2009 2010
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: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0748540
Disease: Scleroderma, Limited
Scleroderma, Limited 		Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
dbSNP: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10488631
rs10488631 		0.742 0.280 7 128954129 upstream gene variant T/C snv 9.0E-02
CUI: C1258104
Disease: Diffuse Scleroderma
Diffuse Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2018 2018
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: 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