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: rs13244268
rs13244268
0.925 0.120 7 73497513 intron variant T/C snv 9.2E-02
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs13244268
rs13244268
0.925 0.120 7 73497513 intron variant T/C snv 9.2E-02
CUI: C0201657
Disease: C-reactive protein measurement
C-reactive protein measurement
0.700 1.000 1 2016 2016
dbSNP: rs13244268
rs13244268
0.925 0.120 7 73497513 intron variant T/C snv 9.2E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs13244268
rs13244268
0.925 0.120 7 73497513 intron variant T/C snv 9.2E-02
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs17145713
rs17145713
0.925 0.120 7 73490480 intron variant C/T snv 0.21
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs17145713
rs17145713
0.925 0.120 7 73490480 intron variant C/T snv 0.21
CUI: C0919677
Disease: Protein C measurement
Protein C measurement
0.800 1.000 1 2010 2010
dbSNP: rs17145713
rs17145713
0.925 0.120 7 73490480 intron variant C/T snv 0.21
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement
0.800 1.000 1 2010 2010
dbSNP: rs17145713
rs17145713
0.925 0.120 7 73490480 intron variant C/T snv 0.21
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs17145713
rs17145713
0.925 0.120 7 73490480 intron variant C/T snv 0.21
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs17145713
rs17145713
0.925 0.120 7 73490480 intron variant C/T snv 0.21
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs200548390
rs200548390
1.000 0.040 7 73478187 missense variant T/C snv 3.3E-04 3.5E-05
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia
Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2018 2018
dbSNP: rs202203062
rs202203062
7 73443388 intron variant G/- del
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders
Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2074755
rs2074755
0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.800 1.000 2 2012 2016
dbSNP: rs2074755
rs2074755
0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2074755
rs2074755
0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2074755
rs2074755
0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia
Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2074755
rs2074755
0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2074755
rs2074755
0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02
CUI: C0018099
Disease: Gout
Gout
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2074755
rs2074755
0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02
High density lipoprotein measurement
0.700 1.000 1 2016 2016
dbSNP: rs2074755
rs2074755
0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure
0.700 1.000 1 2016 2016
dbSNP: rs2074755
rs2074755
0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs2074755
rs2074755
0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2016 2016
dbSNP: rs2074755
rs2074755
0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2016 2016
dbSNP: rs2074755
rs2074755
0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs2074755
rs2074755
0.807 0.240 7 73462836 non coding transcript exon variant T/C snv 9.2E-02
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
0.700 1.000 1 2016 2016