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: rs72551342
rs72551342 		1.000 0.080 2 233760816 missense variant T/C 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 0.700 1.000 10 1992 2013
dbSNP: rs72551345
rs72551345 		1.000 0.080 2 233761113 missense variant G/C;T snv 8.0E-06; 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 0.700 1.000 10 1992 2013
dbSNP: rs72551352
rs72551352 		1.000 0.080 2 233768237 missense variant G/A 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 1.000 10 1992 2013
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: rs72551354
rs72551354 		1.000 0.080 2 233768278 missense variant C/G;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 1.000 10 1992 2013
dbSNP: rs72551355
rs72551355 		1.000 0.080 2 233768336 missense variant G/C 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 1.000 10 1992 2013
dbSNP: rs72551356
rs72551356 		1.000 0.080 2 233768417 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 1.000 10 1992 2013
dbSNP: rs750453538
rs750453538 		1.000 0.080 2 233767859 missense variant G/A;C snv 1.6E-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 1.000 10 1992 2013
dbSNP: rs758873309
rs758873309 		1.000 0.080 2 233767044 missense variant C/A;G;T snv 4.0E-06; 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 0.700 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: rs56059937
rs56059937 		0.925 0.080 2 233760534 missense variant T/A;C snv 8.0E-06
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 6 1995 2007
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: rs3755319
rs3755319 		0.925 0.120 2 233758936 intron variant A/C;G;T snv
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 5 2009 2013
dbSNP: rs55750087
rs55750087 		0.882 0.120 2 233768234 missense variant C/G;T snv 2.0E-05
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 1995 2007
dbSNP: rs72551347
rs72551347 		0.925 0.080 2 233767050 missense variant T/C snv
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 1995 2007
dbSNP: rs10179091
rs10179091 		2 233749337 intron variant T/C snv 0.49
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 4 2009 2013
dbSNP: rs11891311
rs11891311 		2 233730664 intron variant G/A snv 0.42
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 4 2009 2013
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: rs4663965
rs4663965 		2 233741958 intron variant T/C snv 0.55
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.700 1.000 4 2009 2013
dbSNP: rs4663965
rs4663965 		2 233741958 intron variant T/C snv 0.55
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 4 2009 2013
dbSNP: rs6742078
rs6742078 		0.807 0.240 2 233763993 intron variant G/T snv 0.36
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 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