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: rs10271556
rs10271556 		7 106258428 intron variant C/T snv 5.6E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10271556
rs10271556 		7 106258428 intron variant C/T snv 5.6E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10271556
rs10271556 		7 106258428 intron variant C/T snv 5.6E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10271556
rs10271556 		7 106258428 intron variant C/T snv 5.6E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1319501
rs1319501 		0.882 0.120 7 106285307 intron variant C/A;T snv 0.76
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.020 1.000 2 2015 2017
dbSNP: rs3801266
rs3801266 		0.925 0.080 7 106283804 intron variant T/C snv 0.26
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2012 2015
dbSNP: rs3801266
rs3801266 		0.925 0.080 7 106283804 intron variant T/C snv 0.26
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension 		Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases 0.020 1.000 2 2015 2017
dbSNP: rs4730153
rs4730153 		0.882 0.120 7 106263704 intron variant A/G snv 0.49
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2008 2016
dbSNP: rs10487818
rs10487818 		1.000 0.080 7 106269615 intron variant A/T snv 1.1E-02
CUI: C0028756
Disease: Obesity, Morbid
Obesity, Morbid 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1319501
rs1319501 		0.882 0.120 7 106285307 intron variant C/A;T snv 0.76
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1319501
rs1319501 		0.882 0.120 7 106285307 intron variant C/A;T snv 0.76
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1319501
rs1319501 		0.882 0.120 7 106285307 intron variant C/A;T snv 0.76
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs16872158
rs16872158 		0.925 0.040 7 106265839 intron variant T/A snv 1.6E-03
CUI: C1384584
Disease: Generalized osteoarthritis
Generalized osteoarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs16872158
rs16872158 		0.925 0.040 7 106265839 intron variant T/A snv 1.6E-03
CUI: C0409952
Disease: Idiopathic osteoarthritis
Idiopathic osteoarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2058540
rs2058540 		0.925 0.040 7 106276262 non coding transcript exon variant T/C snv 0.27
CUI: C0409952
Disease: Idiopathic osteoarthritis
Idiopathic osteoarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2058540
rs2058540 		0.925 0.040 7 106276262 non coding transcript exon variant T/C snv 0.27
CUI: C1384584
Disease: Generalized osteoarthritis
Generalized osteoarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3801266
rs3801266 		0.925 0.080 7 106283804 intron variant T/C snv 0.26
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3801267
rs3801267 		0.925 0.040 7 106278476 intron variant A/T snv 0.64
CUI: C0409952
Disease: Idiopathic osteoarthritis
Idiopathic osteoarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3801267
rs3801267 		0.925 0.040 7 106278476 intron variant A/T snv 0.64
CUI: C1384584
Disease: Generalized osteoarthritis
Generalized osteoarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4730153
rs4730153 		0.882 0.120 7 106263704 intron variant A/G snv 0.49
CUI: C0409952
Disease: Idiopathic osteoarthritis
Idiopathic osteoarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4730153
rs4730153 		0.882 0.120 7 106263704 intron variant A/G snv 0.49
CUI: C1384584
Disease: Generalized osteoarthritis
Generalized osteoarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2016 2016
dbSNP: rs59744560
rs59744560 		1.000 0.120 7 106285832 5 prime UTR variant C/A snv 9.5E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs61330082
rs61330082 		0.732 0.320 7 106286419 upstream gene variant G/A snv 0.22
CUI: C0151517
Disease: Complete atrioventricular block
Complete atrioventricular block 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs61330082
rs61330082 		0.732 0.320 7 106286419 upstream gene variant G/A snv 0.22
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs61330082
rs61330082 		0.732 0.320 7 106286419 upstream gene variant G/A snv 0.22
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012