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: 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: rs62625011
rs62625011 		0.925 0.080 2 233767092 missense variant G/A snv 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 0.810 1.000 11 1992 2013
dbSNP: rs72551351
rs72551351 		1.000 0.080 2 233767922 missense variant A/G snv 4.0E-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 0.810 1.000 11 1992 2013
dbSNP: rs887829
rs887829 		0.763 0.280 2 233759924 intron variant C/T snv 0.36
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		Digestive System Diseases 0.810 1.000 2 2012 2016
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: 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: rs72551353
rs72551353 		1.000 0.080 2 233768259 missense variant C/T 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 0.800 1.000 10 1992 2013
dbSNP: rs4148325
rs4148325 		0.851 0.080 2 233764663 intron variant C/T snv 0.36
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 7 2011 2019
dbSNP: rs887829
rs887829 		0.763 0.280 2 233759924 intron variant C/T snv 0.36
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 7 2009 2015
dbSNP: rs3755319
rs3755319 		0.925 0.120 2 233758936 intron variant A/C;G;T snv
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 6 2009 2015
dbSNP: rs6742078
rs6742078 		0.807 0.240 2 233763993 intron variant G/T snv 0.36
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 6 2009 2015
dbSNP: rs10179091
rs10179091 		2 233749337 intron variant T/C snv 0.49
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 5 2009 2015
dbSNP: rs11891311
rs11891311 		2 233730664 intron variant G/A snv 0.42
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 4 2009 2013
dbSNP: rs7564935
rs7564935 		2 233736540 intron variant G/T snv 0.37
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 4 2009 2019
dbSNP: rs929596
rs929596 		0.925 0.040 2 233765830 intron variant A/G snv 0.32
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 4 2012 2019
dbSNP: rs10178992
rs10178992 		2 233749231 intron variant T/A snv 0.37
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: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 3 2009 2015
dbSNP: rs11673726
rs11673726 		2 233755414 non coding transcript exon variant G/A;T snv
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 3 2009 2015
dbSNP: rs11695484
rs11695484 		2 233745803 intron variant A/G snv 0.30
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 3 2012 2015
dbSNP: rs11888459
rs11888459 		2 233747994 non coding transcript exon variant T/C snv 0.37
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 3 2009 2015
dbSNP: rs4663969
rs4663969 		1.000 2 233746667 intron variant C/A;T snv
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 3 2009 2015
dbSNP: rs6714634
rs6714634 		2 233756119 non coding transcript exon variant T/C snv 0.30
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 3 2012 2015
dbSNP: rs7604115
rs7604115 		2 233749470 intron variant C/T snv 0.37
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 3 2009 2015