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: 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: 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: 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: 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: 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: 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
dbSNP: rs2280714
rs2280714
0.752 0.440 7 128954671 3 prime UTR variant C/T snv 0.64
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.060 1.000 6 2006 2017