Disease: Gilbert Disease (disorder) ×
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: rs34993780
rs34993780 		0.827 0.120 2 233772413 missense variant T/A;C;G snv 2.2E-04
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.860 1.000 11 1995 2018
dbSNP: rs4148323
rs4148323 		0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 15 1995 2018
dbSNP: rs35350960
rs35350960 		0.925 0.080 2 233760973 missense variant C/A;T snv 1.5E-03; 4.4E-05
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.730 1.000 3 2001 2007
dbSNP: rs56059937
rs56059937 		0.925 0.080 2 233760534 missense variant T/A;C snv 8.0E-06
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 6 1995 2007
dbSNP: rs34946978
rs34946978 		0.851 0.120 2 233768226 missense variant C/G;T snv 1.2E-03
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2018 2018
dbSNP: rs55750087
rs55750087 		0.882 0.120 2 233768234 missense variant C/G;T snv 2.0E-05
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 1995 2007
dbSNP: rs72551347
rs72551347 		0.925 0.080 2 233767050 missense variant T/C snv
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 1995 2007
dbSNP: rs72551349
rs72551349 		0.925 0.080 2 233767873 stop gained C/G;T snv 4.0E-06; 2.8E-05
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs8175347
rs8175347 		0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.030 1.000 3 2011 2019
dbSNP: rs368362776
rs368362776 		0.882 0.120 2 233693633 missense variant C/G;T snv 4.0E-06
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2014 2016
dbSNP: rs143900667
rs143900667 		1.000 0.080 2 233718979 synonymous variant C/G;T snv 2.6E-04; 1.6E-05
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs17868323
rs17868323 		0.925 0.160 2 233682324 missense variant T/A;G snv 0.59
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs281865418
rs281865418 		0.882 0.080 2 233761127 stop gained C/A;G snv
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs386656364
rs386656364 		0.807 0.160 2 233682328 missense variant CG/AA mnv
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs4124874
rs4124874 		0.851 0.120 2 233757013 intron variant T/A;G snv
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4148326
rs4148326 		0.925 0.080 2 233764816 intron variant T/C snv 0.49
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs549391527
rs549391527 		0.925 0.080 2 233767903 missense variant C/G;T snv 4.0E-06
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs6742078
rs6742078 		0.807 0.240 2 233763993 intron variant G/T snv 0.36
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs771314938
rs771314938 		0.807 0.160 2 233682328 frameshift variant CG/- del
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs774010631
rs774010631 		0.827 0.160 2 233719115 missense variant G/C snv 2.4E-05 2.1E-05
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs879625015
rs879625015 		0.807 0.160 2 233682328 frameshift variant CG/A delins
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008