Disease: Crigler Najjar syndrome, type 2 ×
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: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.880 1.000 23 1993 2018
dbSNP: rs111033541
rs111033541 		1.000 0.080 2 233760331 missense variant T/G snv
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 16 1993 2013
dbSNP: rs72551348
rs72551348 		1.000 0.080 2 233767161 missense variant A/G snv 4.0E-06 2.1E-05
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 16 1993 2013
dbSNP: rs4148323
rs4148323 		0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.750 1.000 20 1993 2018
dbSNP: rs34946978
rs34946978 		0.851 0.120 2 233768226 missense variant C/G;T snv 1.2E-03
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2018 2018
dbSNP: rs35350960
rs35350960 		0.925 0.080 2 233760973 missense variant C/A;T snv 1.5E-03; 4.4E-05
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2007 2007
dbSNP: rs1283652721
rs1283652721 		0.925 0.080 2 233768265 missense variant G/T snv 7.0E-06
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 16 1993 2013
dbSNP: rs139607673
rs139607673 		0.925 0.080 2 233767858 missense variant C/T snv 8.0E-06; 4.0E-06 1.4E-05
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 16 1993 2013
dbSNP: rs28934877
rs28934877 		1.000 0.080 2 233768333 missense variant A/C;G snv 4.0E-06; 2.8E-05
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 16 1993 2013
dbSNP: rs35003977
rs35003977 		0.925 0.080 2 233760961 missense variant T/G snv 5.9E-04 3.6E-04
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 16 1993 2013
dbSNP: rs397978903
rs397978903 		1.000 0.080 2 233761122 missense variant A/T snv 2.8E-05 2.8E-05
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 16 1993 2013
dbSNP: rs55750087
rs55750087 		0.882 0.120 2 233768234 missense variant C/G;T snv 2.0E-05
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 16 1993 2013
dbSNP: rs72551341
rs72551341 		1.000 0.080 2 233760811 missense variant T/A snv 4.8E-05 3.5E-05
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 16 1993 2013
dbSNP: rs72551343
rs72551343 		0.925 0.080 2 233760912 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 3.2E-05
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 16 1993 2013
dbSNP: rs72551347
rs72551347 		0.925 0.080 2 233767050 missense variant T/C snv
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 16 1993 2013
dbSNP: rs748989741
rs748989741 		1.000 0.080 2 233768243 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 16 1993 2013
dbSNP: rs754922685
rs754922685 		1.000 0.080 2 233760976 missense variant A/G snv 4.0E-06
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 16 1993 2013
dbSNP: rs778766461
rs778766461 		1.000 0.080 2 233768342 missense variant C/A;T snv 3.6E-05
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 16 1993 2013
dbSNP: rs1349037761
rs1349037761 		0.925 0.080 2 233768262 missense variant A/G snv
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1476500325
rs1476500325 		0.925 0.080 2 233772338 missense variant T/C snv 7.0E-06
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs758411577
rs758411577 		1.000 0.080 2 233772285 missense variant T/C snv 4.0E-06
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs111033539
rs111033539 		0.925 0.080 2 233767160 stop gained C/T snv
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2003 2014
dbSNP: rs281865418
rs281865418 		0.882 0.080 2 233761127 stop gained C/A;G snv
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2003 2003
dbSNP: rs549391527
rs549391527 		0.925 0.080 2 233767903 missense variant C/G;T snv 4.0E-06
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007
dbSNP: rs56059937
rs56059937 		0.925 0.080 2 233760534 missense variant T/A;C snv 8.0E-06
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2007 2007