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: rs137852488
rs137852488 		1.000 0.120 X 134475257 missense variant G/C snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 16 1983 2014
dbSNP: rs137852483
rs137852483 		1.000 0.120 X 134490192 missense variant T/A snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.810 1.000 15 1983 2014
dbSNP: rs137852480
rs137852480 		1.000 0.120 X 134473453 missense variant T/C snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1983 2014
dbSNP: rs137852481
rs137852481 		1.000 0.120 X 134475268 missense variant C/A snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1983 2014
dbSNP: rs137852486
rs137852486 		1.000 0.120 X 134498670 missense variant T/G snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1983 2014
dbSNP: rs137852487
rs137852487 		1.000 0.120 X 134475255 missense variant G/A snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1983 2014
dbSNP: rs137852490
rs137852490 		1.000 0.120 X 134500030 missense variant C/G snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1983 2014
dbSNP: rs137852491
rs137852491 		1.000 0.120 X 134473465 missense variant G/A snv 4.4E-05
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1983 2014
dbSNP: rs137852492
rs137852492 		1.000 0.120 X 134498433 missense variant G/T snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1983 2014
dbSNP: rs137852493
rs137852493 		1.000 0.120 X 134498431 missense variant C/T snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1983 2014
dbSNP: rs137852496
rs137852496 		1.000 0.120 X 134493533 missense variant T/A snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1983 2014
dbSNP: rs267606863
rs267606863 		1.000 0.120 X 134498655 missense variant G/A;C snv
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 15 1983 2014
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