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: rs4987358
rs4987358
1 169696410 intron variant G/A;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 2 2018 2018
dbSNP: rs12122803
rs12122803
1 169825364 intron variant A/G snv 1.4E-02
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12132692
rs12132692
1 169763602 intron variant C/T snv 6.9E-02
CUI: C1629609
Disease: Age at menopause
Age at menopause
0.700 1.000 1 2019 2019
dbSNP: rs16862512
rs16862512
1 169680550 intron variant T/C snv 3.0E-03
CUI: C0523953
Disease: Cardiac troponin T measurement
Cardiac troponin T measurement
0.700 1.000 1 2019 2019
dbSNP: rs185120584
rs185120584
1 169689987 intron variant C/T snv 7.6E-03
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2223286
rs2223286
1 169696491 intron variant T/C snv 0.29 0.38
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs4265482
rs4265482
1 169758741 intron variant T/C snv 0.31
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs7531806
rs7531806
1.000 0.040 1 169681903 intron variant G/A snv 0.61
CUI: C0001144
Disease: Acne Vulgaris
Acne Vulgaris
Skin and Connective Tissue Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1458766475
rs1458766475
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.090 0.889 9 1997 2014
dbSNP: rs5361
rs5361
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.090 0.889 9 1997 2014
dbSNP: rs5361
rs5361
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.080 0.875 8 2001 2011
dbSNP: rs1458766475
rs1458766475
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.070 0.857 7 2001 2009
dbSNP: rs5361
rs5361
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
Cardiovascular Diseases 0.070 1.000 7 1999 2019
dbSNP: rs5361
rs5361
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
Cardiovascular Diseases 0.070 1.000 7 1999 2019
dbSNP: rs1458766475
rs1458766475
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
Cardiovascular Diseases 0.060 1.000 6 1999 2012
dbSNP: rs1458766475
rs1458766475
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
Cardiovascular Diseases 0.060 1.000 6 1999 2012
dbSNP: rs1458766475
rs1458766475
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.050 0.800 5 2003 2009
dbSNP: rs5361
rs5361
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.050 0.800 5 2003 2009
dbSNP: rs1458766475
rs1458766475
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.040 0.750 4 1998 2014
dbSNP: rs5361
rs5361
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.040 0.750 4 1998 2014
dbSNP: rs1458766475
rs1458766475
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
Nervous System Diseases; Cardiovascular Diseases 0.030 1.000 3 2009 2014
dbSNP: rs1458766475
rs1458766475
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2003 2009
dbSNP: rs1458766475
rs1458766475
0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
Nervous System Diseases; Cardiovascular Diseases 0.030 1.000 3 2009 2014
dbSNP: rs5361
rs5361
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
Nervous System Diseases; Cardiovascular Diseases 0.030 1.000 3 2009 2014
dbSNP: rs5361
rs5361
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2003 2009