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: rs1903003
rs1903003
0.925 0.080 4 88965146 intron variant C/G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs2869966
rs2869966
1.000 0.040 4 88947927 intron variant C/T snv 0.47
CUI: C0005823
Disease: Blood Pressure
Blood Pressure
0.700 1.000 1 2019 2019
dbSNP: rs3822072
rs3822072
4 88820118 intron variant G/A;C snv
CUI: C0005893
Disease: Body mass index procedure
Body mass index procedure
0.700 1.000 1 2012 2012
dbSNP: rs1059122
rs1059122
0.882 0.160 4 88726273 3 prime UTR variant T/A snv 0.46
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2869967
rs2869967
0.827 0.120 4 88948181 intron variant T/C snv 0.49
CUI: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic
Infections; Respiratory Tract Diseases 0.700 1.000 1 2014 2014
dbSNP: rs4416442
rs4416442
0.925 0.080 4 88945562 intron variant T/C snv 0.45
CUI: C0008677
Disease: Bronchitis, Chronic
Bronchitis, Chronic
Infections; Respiratory Tract Diseases 0.700 1.000 1 2014 2014
dbSNP: rs2869967
rs2869967
0.827 0.120 4 88948181 intron variant T/C snv 0.49
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7671167
rs7671167
0.925 0.040 4 88962828 intron variant C/T snv 0.53
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.840 1.000 6 2010 2015
dbSNP: rs2869967
rs2869967
0.827 0.120 4 88948181 intron variant T/C snv 0.49
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.820 0.750 4 2010 2015
dbSNP: rs1903003
rs1903003
0.925 0.080 4 88965146 intron variant C/G;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.710 1.000 3 2010 2015
dbSNP: rs2869966
rs2869966
1.000 0.040 4 88947927 intron variant C/T snv 0.47
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.700 1.000 2 2014 2019
dbSNP: rs4416442
rs4416442
0.925 0.080 4 88945562 intron variant T/C snv 0.45
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.700 1.000 2 2014 2014
dbSNP: rs17014601
rs17014601
1.000 0.040 4 88809748 intron variant T/C snv 6.7E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1964516
rs1964516
1.000 0.040 4 88954758 intron variant C/T snv 0.45
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.800 1.000 1 2012 2012
dbSNP: rs2013701
rs2013701
1.000 0.040 4 88963935 intron variant G/T snv 0.51
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6830970
rs6830970
1.000 0.040 4 88855930 3 prime UTR variant A/G snv 0.38
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs6837671
rs6837671
0.925 0.040 4 88951941 intron variant A/G snv 0.47
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.700 1.000 1 2017 2017
dbSNP: rs7671261
rs7671261
1.000 0.040 4 88962667 intron variant G/A snv 0.59
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs7674369
rs7674369
1.000 0.040 4 88951025 intron variant G/A;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs3822072
rs3822072
4 88820118 intron variant G/A;C snv
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index
0.700 1.000 1 2012 2012
dbSNP: rs2869967
rs2869967
0.827 0.120 4 88948181 intron variant T/C snv 0.49
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.800 1.000 2 2012 2015
dbSNP: rs10015415
rs10015415
4 89007052 intron variant T/C snv 0.54
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.700 1.000 1 2015 2015
dbSNP: rs10019681
rs10019681
4 88911381 intron variant C/T snv 0.28
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.700 1.000 1 2015 2015
dbSNP: rs10021465
rs10021465
4 88829210 intron variant A/G snv 0.37
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.700 1.000 1 2015 2015
dbSNP: rs10028589
rs10028589
4 88919909 intron variant C/T snv 0.29
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
0.700 1.000 1 2015 2015