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: 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: rs35982104
rs35982104 		2 233698914 intron variant -/T ins
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009
dbSNP: rs35982104
rs35982104 		2 233698914 intron variant -/T ins
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 1 2009 2009
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: rs34983651
rs34983651 		2 233760233 intron variant -/TA ins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6761246
rs6761246 		2 233694793 intron variant A/C snv 0.65
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 3 2009 2013
dbSNP: rs6761246
rs6761246 		2 233694793 intron variant A/C snv 0.65
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 3 2009 2013
dbSNP: rs1105879
rs1105879 		0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 2 2012 2013
dbSNP: rs1105879
rs1105879 		0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 2 2012 2013
dbSNP: rs12988520
rs12988520 		1.000 0.040 2 233698748 intron variant A/C snv 0.51
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 2 2009 2019
dbSNP: rs1105879
rs1105879 		0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34
CUI: C0002875
Disease: Cooley's anemia
Cooley's anemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1105879
rs1105879 		0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1105879
rs1105879 		0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1105879
rs1105879 		0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1105879
rs1105879 		0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34
CUI: C0001430
Disease: Adenoma
Adenoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1105879
rs1105879 		0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1105879
rs1105879 		0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1105879
rs1105879 		0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs1105879
rs1105879 		0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12988520
rs12988520 		1.000 0.040 2 233698748 intron variant A/C snv 0.51
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2009 2009