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: rs7797566
rs7797566 		7 73482065 intron variant A/C snv 0.14
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs714052
rs714052 		0.925 0.120 7 73450539 intron variant A/G snv 9.2E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.800 1.000 5 2009 2019
dbSNP: rs1178977
rs1178977 		0.925 0.120 7 73442719 splice region variant A/G snv 0.16 0.21
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 2 2013 2019
dbSNP: rs1178977
rs1178977 		0.925 0.120 7 73442719 splice region variant A/G snv 0.16 0.21
CUI: C0919677
Disease: Protein C measurement
Protein C measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1178977
rs1178977 		0.925 0.120 7 73442719 splice region variant A/G snv 0.16 0.21
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010
dbSNP: rs1178977
rs1178977 		0.925 0.120 7 73442719 splice region variant A/G snv 0.16 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: rs1178977
rs1178977 		0.925 0.120 7 73442719 splice region variant A/G snv 0.16 0.21
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1178977
rs1178977 		0.925 0.120 7 73442719 splice region variant A/G snv 0.16 0.21
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2017 2017
dbSNP: rs1178977
rs1178977 		0.925 0.120 7 73442719 splice region variant A/G snv 0.16 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: rs12056034
rs12056034 		0.882 0.160 7 73464315 intron variant A/G snv 9.2E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12056034
rs12056034 		0.882 0.160 7 73464315 intron variant A/G 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: rs12056034
rs12056034 		0.882 0.160 7 73464315 intron variant A/G snv 9.2E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2008 2008
dbSNP: rs12056034
rs12056034 		0.882 0.160 7 73464315 intron variant A/G 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: rs12056034
rs12056034 		0.882 0.160 7 73464315 intron variant A/G snv 9.2E-02
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 2010 2010
dbSNP: rs1306476
rs1306476 		7 73454192 intron variant A/G snv 0.23
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs13221253
rs13221253 		7 73507903 intron variant A/G snv 0.13
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs35330527
rs35330527 		7 73455877 intron variant A/G snv 0.14
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs35695283
rs35695283 		7 73479073 intron variant A/G snv 9.2E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs714052
rs714052 		0.925 0.120 7 73450539 intron variant A/G 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: rs714052
rs714052 		0.925 0.120 7 73450539 intron variant A/G snv 9.2E-02
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs714052
rs714052 		0.925 0.120 7 73450539 intron variant A/G 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: rs7811265
rs7811265 		0.925 0.120 7 73520180 intron variant A/G snv 0.23
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: rs7811265
rs7811265 		0.925 0.120 7 73520180 intron variant A/G snv 0.23
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7811265
rs7811265 		0.925 0.120 7 73520180 intron variant A/G snv 0.23
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: rs7811265
rs7811265 		0.925 0.120 7 73520180 intron variant A/G snv 0.23
CUI: C1168438
Disease: Protein C antigen measurement
Protein C antigen measurement 		0.700 1.000 1 2010 2010