Disease: Gout, HPRT-Related ×
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: rs137852477
rs137852477 		1.000 0.120 X 134490199 missense variant T/G snv
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 12 1983 2014
dbSNP: rs137852478
rs137852478 		1.000 0.120 X 134475285 missense variant A/T snv
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 12 1983 2014
dbSNP: rs137852479
rs137852479 		1.000 0.120 X 134498677 missense variant A/G snv
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 12 1983 2014
dbSNP: rs137852482
rs137852482 		1.000 0.120 X 134486475 missense variant C/T snv
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 12 1983 2014
dbSNP: rs137852484
rs137852484 		1.000 0.120 X 134493586 missense variant G/T snv
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 12 1983 2014
dbSNP: rs137852485
rs137852485 		0.925 0.120 X 134475358 missense variant C/A snv
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 12 1983 2014
dbSNP: rs137852494
rs137852494 		0.925 0.160 X 134475197 stop gained C/G;T snv
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 12 1983 2014
dbSNP: rs137852498
rs137852498 		1.000 0.120 X 134498407 missense variant C/T snv
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 12 1983 2014
dbSNP: rs137852499
rs137852499 		1.000 0.120 X 134473377 missense variant G/A snv
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 12 1983 2014
dbSNP: rs137852500
rs137852500 		1.000 0.120 X 134475218 missense variant G/A snv
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 12 1983 2014
dbSNP: rs137852501
rs137852501 		1.000 0.120 X 134475278 missense variant C/G snv
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 12 1983 2014
dbSNP: rs137852504
rs137852504 		1.000 0.120 X 134498657 missense variant C/G snv
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 12 1983 2014
dbSNP: rs387906725
rs387906725 		0.882 0.160 X 134475189 missense variant G/A snv
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.800 1.000 12 1983 2014
dbSNP: rs1228634091
rs1228634091 		1.000 0.120 X 134475225 missense variant A/G snv 1.1E-05
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 12 1983 2014
dbSNP: rs137852489
rs137852489 		0.925 0.160 X 134486471 stop gained C/A;T snv 2.4E-05
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 1990 1997
dbSNP: rs1556030169
rs1556030169 		0.925 0.160 X 134498683 frameshift variant -/T delins
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 3 2000 2017
dbSNP: rs137852502
rs137852502 		1.000 0.120 X 134475201 missense variant A/G snv
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs137852506
rs137852506 		1.000 0.120 X 134475239 missense variant C/T snv
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs369065223
rs369065223 		0.925 0.160 X 134486514 stop gained C/G;T snv 5.5E-06
CUI: C0268117
Disease: Gout, HPRT-Related
Gout, HPRT-Related 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0