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: rs4311394
rs4311394 		1.000 0.080 5 54004832 intron variant A/G snv 0.27
CUI: C2700366
Disease: Adiponectin Measurement
Adiponectin Measurement 		0.800 1.000 1 2009 2009
dbSNP: rs6450176
rs6450176 		5 54002195 intron variant G/A snv 0.27
CUI: C2700366
Disease: Adiponectin Measurement
Adiponectin Measurement 		0.800 1.000 1 2012 2012
dbSNP: rs6450176
rs6450176 		5 54002195 intron variant G/A snv 0.27
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 2 2010 2013
dbSNP: rs255758
rs255758 		1.000 0.120 5 54015672 intron variant C/A snv 0.71
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs35951
rs35951 		1.000 0.080 5 54296531 intron variant G/T snv 0.73
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		Chemically-Induced Disorders; Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs35951
rs35951 		1.000 0.080 5 54296531 intron variant G/T snv 0.73
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.700 1.000 1 2014 2014
dbSNP: rs35951
rs35951 		1.000 0.080 5 54296531 intron variant G/T snv 0.73
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		Chemically-Induced Disorders 0.700 1.000 1 2014 2014
dbSNP: rs1694068
rs1694068 		5 53987800 intron variant T/A snv 0.62
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs702634
rs702634 		1.000 0.080 5 53975590 intron variant G/A snv 0.72
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs7735249
rs7735249 		5 54014309 intron variant C/G snv 9.0E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2016 2016
dbSNP: rs7735249
rs7735249 		5 54014309 intron variant C/G snv 9.0E-02
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs702634
rs702634 		1.000 0.080 5 53975590 intron variant G/A snv 0.72
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.800 1.000 2 2014 2017
dbSNP: rs111366116
rs111366116 		5 53999716 intron variant C/T snv 8.4E-02
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2017 2017
dbSNP: rs16882447
rs16882447 		5 54207072 intron variant C/A snv 0.33
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2017 2017
dbSNP: rs16882447
rs16882447 		5 54207072 intron variant C/A snv 0.33
CUI: C1306620
Disease: Systolic blood pressure measurement
Systolic blood pressure measurement 		0.700 1.000 1 2017 2017
dbSNP: rs6450176
rs6450176 		5 54002195 intron variant G/A snv 0.27
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 4 2010 2018
dbSNP: rs4311394
rs4311394 		1.000 0.080 5 54004832 intron variant A/G snv 0.27
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2014 2018
dbSNP: rs11296991
rs11296991 		5 54012825 intron variant TT/-;T;TTT delins 0.29
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12654393
rs12654393 		5 54006790 intron variant G/T snv 0.27
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1694068
rs1694068 		5 53987800 intron variant T/A snv 0.62
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1694068
rs1694068 		5 53987800 intron variant T/A snv 0.62
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs28499105
rs28499105 		5 53978637 intron variant G/A snv 0.67
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs35006
rs35006 		1.000 0.040 5 54146895 intron variant C/G snv 0.24
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs4865796
rs4865796 		1.000 0.080 5 53976834 intron variant G/A snv 0.72
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs4865796
rs4865796 		1.000 0.080 5 53976834 intron variant G/A snv 0.72
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018