SP110, SP110 nuclear body protein, 3431

N. diseases: 65; N. variants: 27
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: rs10208770
rs10208770
1.000 0.080 2 230170151 intron variant T/G snv 0.14
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
Infections; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10498244
rs10498244
1.000 0.080 2 230173117 non coding transcript exon variant T/C snv 0.26
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
Infections; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1135791
rs1135791
0.925 0.080 2 230177560 missense variant A/G snv 0.42 0.40
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
Infections; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs16826860
rs16826860
1.000 0.080 2 230182908 intron variant G/A snv 7.2E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
Infections; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs722555
rs722555
1.000 0.080 2 230168800 non coding transcript exon variant C/T snv 0.57
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
Infections; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs9061
rs9061
0.925 0.080 2 230212395 missense variant C/T snv 0.11 9.1E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
Infections; Respiratory Tract Diseases 0.010 < 0.001 1 2016 2016