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: rs111033539
rs111033539 		0.925 0.080 2 233767160 stop gained C/T snv
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
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: rs1349037761
rs1349037761 		0.925 0.080 2 233768262 missense variant A/G snv
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs139607673
rs139607673 		0.925 0.080 2 233767858 missense variant C/T snv 8.0E-06; 4.0E-06 1.4E-05
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		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: rs1476500325
rs1476500325 		0.925 0.080 2 233772338 missense variant T/C snv 7.0E-06
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1553620849
rs1553620849 		1.000 0.080 2 233760895 inframe deletion CATGACCTTCCTGCAGCGGGTGAA/- delins
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs281865418
rs281865418 		0.882 0.080 2 233761127 stop gained C/A;G snv
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs34946978
rs34946978 		0.851 0.120 2 233768226 missense variant C/G;T snv 1.2E-03
CUI: C0270210
Disease: Lucey-Driscoll syndrome (disorder)
Lucey-Driscoll syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs34946978
rs34946978 		0.851 0.120 2 233768226 missense variant C/G;T snv 1.2E-03
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs34946978
rs34946978 		0.851 0.120 2 233768226 missense variant C/G;T snv 1.2E-03
CUI: C1866173
Disease: BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 		0.700 0
dbSNP: rs34946978
rs34946978 		0.851 0.120 2 233768226 missense variant C/G;T snv 1.2E-03
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs34993780
rs34993780 		0.827 0.120 2 233772413 missense variant T/A;C;G snv 2.2E-04
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs34993780
rs34993780 		0.827 0.120 2 233772413 missense variant T/A;C;G snv 2.2E-04
CUI: C1866173
Disease: BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 		0.700 0
dbSNP: rs34993780
rs34993780 		0.827 0.120 2 233772413 missense variant T/A;C;G snv 2.2E-04
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs3755319
rs3755319 		0.925 0.120 2 233758936 intron variant A/C;G;T snv
CUI: C0270210
Disease: Lucey-Driscoll syndrome (disorder)
Lucey-Driscoll syndrome (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587776761
rs587776761 		1.000 0.080 2 233767046 frameshift variant TACATTAATGCTTC/A delins
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587776762
rs587776762 		1.000 0.080 2 233760795 inframe deletion CTT/- delins
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587776763
rs587776763 		1.000 0.080 2 233760761 frameshift variant -/T ins
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587776764
rs587776764 		1.000 0.080 2 233761152 splice donor variant G/C snv 2.1E-05
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587776765
rs587776765 		1.000 0.080 2 233760432 stop gained C/T snv
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587776766
rs587776766 		1.000 0.080 2 233768218 splice acceptor variant A/G snv
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs587784535
rs587784535 		2 233767937 splice donor variant G/T snv
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs6742078
rs6742078 		0.807 0.240 2 233763993 intron variant G/T snv 0.36
CUI: C1866173
Disease: BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 		0.700 0
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: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0