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: rs12654264
rs12654264 		0.925 0.120 5 75352778 intron variant A/T snv 0.38
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs12654264
rs12654264 		0.925 0.120 5 75352778 intron variant A/T snv 0.38
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs12916
rs12916 		0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12916
rs12916 		0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12916
rs12916 		0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs12916
rs12916 		0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12916
rs12916 		0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12916
rs12916 		0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12916
rs12916 		0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs17238484
rs17238484 		1.000 0.080 5 75352671 intron variant G/T snv 0.22
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs17238484
rs17238484 		1.000 0.080 5 75352671 intron variant G/T snv 0.22
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17238484
rs17238484 		1.000 0.080 5 75352671 intron variant G/T snv 0.22
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17238484
rs17238484 		1.000 0.080 5 75352671 intron variant G/T snv 0.22
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs17238540
rs17238540 		1.000 0.040 5 75359673 non coding transcript exon variant T/G snv 4.0E-02
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs17238540
rs17238540 		1.000 0.040 5 75359673 non coding transcript exon variant T/G snv 4.0E-02
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3761739
rs3761739 		5 75335676 intron variant C/T snv 0.15
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3761739
rs3761739 		5 75335676 intron variant C/T snv 0.15
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3761739
rs3761739 		5 75335676 intron variant C/T snv 0.15
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3761740
rs3761740 		0.882 0.160 5 75336308 intron variant C/A snv 8.2E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs3761740
rs3761740 		0.882 0.160 5 75336308 intron variant C/A snv 8.2E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3761740
rs3761740 		0.882 0.160 5 75336308 intron variant C/A snv 8.2E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2009 2009
dbSNP: rs3761740
rs3761740 		0.882 0.160 5 75336308 intron variant C/A snv 8.2E-02
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3846661
rs3846661 		5 75343353 intron variant A/G snv 0.56
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3846662
rs3846662 		0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3846662
rs3846662 		0.763 0.280 5 75355259 non coding transcript exon variant A/G snv 0.50 0.58
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016