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: rs1059122
rs1059122
0.882 0.160 4 88726273 3 prime UTR variant T/A snv 0.46
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
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: rs1059122
rs1059122
0.882 0.160 4 88726273 3 prime UTR variant T/A snv 0.46
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2019 2019
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: rs2609279
rs2609279
4 88934344 intron variant T/C snv 0.75
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019
dbSNP: rs2609279
rs2609279
4 88934344 intron variant T/C snv 0.75
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure)
0.700 1.000 1 2019 2019
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: rs2869966
rs2869966
1.000 0.040 4 88947927 intron variant C/T snv 0.47
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure)
0.700 1.000 1 2019 2019
dbSNP: rs2869966
rs2869966
1.000 0.040 4 88947927 intron variant C/T snv 0.47
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019
dbSNP: rs3017895
rs3017895
1.000 0.080 4 88728340 3 prime UTR variant A/G snv 0.19
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs35232147
rs35232147
4 88995073 intron variant T/C snv 0.68
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure)
0.700 1.000 1 2019 2019
dbSNP: rs4693978
rs4693978
4 88933016 intron variant A/C snv 0.56
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019
dbSNP: rs74710229
rs74710229
4 88875003 intron variant T/C snv 0.21
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
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: rs77033326
rs77033326
1.000 0.040 4 88856467 intron variant G/A snv 1.3E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs77033326
rs77033326
1.000 0.040 4 88856467 intron variant G/A snv 1.3E-02
CUI: C0038663
Disease: Suicide attempt
Suicide attempt
Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs9991328
rs9991328
4 88791970 intron variant C/T snv 0.53
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs2167750
rs2167750
4 88808923 intron variant C/T snv 0.50
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 3 2018 2019
dbSNP: rs13133548
rs13133548
4 88818977 intron variant G/A snv 0.49
High density lipoprotein measurement
0.700 1.000 1 2018 2018
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: rs2609255
rs2609255
0.882 0.080 4 88890044 intron variant G/T snv 0.73
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2609255
rs2609255
0.882 0.080 4 88890044 intron variant G/T snv 0.73
CUI: C0037116
Disease: Silicosis
Silicosis
Respiratory Tract Diseases; Occupational Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3822072
rs3822072
4 88820118 intron variant G/A;C snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2018 2018
dbSNP: rs6837671
rs6837671
0.925 0.040 4 88951941 intron variant A/G snv 0.47
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis
Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs9991328
rs9991328
4 88791970 intron variant C/T snv 0.53
High density lipoprotein measurement
0.700 1.000 1 2018 2018