Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.850 1.000 5 2008 2017
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma
0.020 1.000 2 2010 2017
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0409974
Disease: Lupus Erythematosus
Lupus Erythematosus
0.010 1.000 1 2015 2015
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome
0.010 1.000 1 2010 2010
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis
0.010 1.000 1 2010 2010
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.010 1.000 1 2015 2015
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial
0.010 1.000 1 2014 2014
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension
0.010 1.000 1 2010 2010
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0011633
Disease: Dermatomyositis
Dermatomyositis
0.010 1.000 1 2014 2014
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
0.010 1.000 1 2011 2011
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
Idiopathic pulmonary arterial hypertension
0.010 1.000 1 2010 2010
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0221056
Disease: Adult type dermatomyositis
Adult type dermatomyositis
0.010 1.000 1 2014 2014
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0085655
Disease: Polymyositis
Polymyositis
0.010 1.000 1 2014 2014
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura
0.010 1.000 1 2016 2016
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
0.010 1.000 1 2011 2011
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0024131
Disease: Lupus Vulgaris
Lupus Vulgaris
0.010 1.000 1 2015 2015
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C4721507
Disease: Alveolitis, Fibrosing
Alveolitis, Fibrosing
0.010 1.000 1 2010 2010
dbSNP: rs5029939
rs5029939
0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
Lupus Erythematosus, Discoid
0.010 1.000 1 2015 2015