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: rs4148329
rs4148329 		2 233773416 upstream gene variant C/T snv 0.50
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs4148329
rs4148329 		2 233773416 upstream gene variant C/T snv 0.50
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs6717546
rs6717546 		1.000 0.040 2 233773473 upstream gene variant A/G snv 0.59
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs6717546
rs6717546 		1.000 0.040 2 233773473 upstream gene variant A/G snv 0.59
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs6717546
rs6717546 		1.000 0.040 2 233773473 upstream gene variant A/G snv 0.59
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
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: 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: rs10929301
rs10929301 		2 233755003 splice region variant C/G;T snv 0.48
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 3 2009 2015
dbSNP: rs10929301
rs10929301 		2 233755003 splice region variant C/G;T snv 0.48
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 2 2009 2012
dbSNP: rs10929301
rs10929301 		2 233755003 splice region variant C/G;T snv 0.48
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2013 2013
dbSNP: rs10929301
rs10929301 		2 233755003 splice region variant C/G;T snv 0.48
CUI: C0019693
Disease: HIV Infections
HIV Infections 		Infections; Immune System Diseases 0.700 1.000 1 2015 2015
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: 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: 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: rs748219743
rs748219743 		1.000 0.080 2 233760634 frameshift variant -/A delins
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0
dbSNP: rs748219743
rs748219743 		1.000 0.080 2 233760634 frameshift variant -/A delins
CUI: C0741494
Disease: Elevated total bilirubin
Elevated total bilirubin 		0.700 0
dbSNP: rs748219743
rs748219743 		1.000 0.080 2 233760634 frameshift variant -/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: rs748219743
rs748219743 		1.000 0.080 2 233760634 frameshift variant -/A delins
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		0.700 0
dbSNP: rs766536479
rs766536479 		1.000 0.080 2 233760908 frameshift variant -/CAGC delins 1.2E-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
dbSNP: rs797046090
rs797046090 		2 233760524 frameshift variant -/GTAC delins
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs797046091
rs797046091 		2 233761003 frameshift variant AG/- delins
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs11563251
rs11563251 		2 233770738 3 prime UTR variant C/T snv 0.19
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 2 2013 2017
dbSNP: rs11563251
rs11563251 		2 233770738 3 prime UTR variant C/T snv 0.19
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 2 2012 2013
dbSNP: rs8330
rs8330 		1.000 0.040 2 233772999 3 prime UTR variant G/C snv 0.72
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 2 2009 2018
dbSNP: rs1042640
rs1042640 		1.000 0.080 2 233772898 3 prime UTR variant G/A;C;T snv
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009