Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
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) 		0.800 1.000 15 1995 2018
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0344395
Disease: Bilirubin measurement
Bilirubin measurement 		0.800 1.000 2 2010 2013
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.750 1.000 20 1993 2018
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2010 2010
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 1 2013 2013
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0270210
Disease: Lucey-Driscoll syndrome (disorder)
Lucey-Driscoll syndrome (disorder) 		0.700 1.000 1 2000 2000
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		0.100 0.923 13 2001 2019
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0857007
Disease: Hyperbilirubinemia, Neonatal
Hyperbilirubinemia, Neonatal 		0.100 1.000 10 2007 2019
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0022353
Disease: Neonatal Jaundice
Neonatal Jaundice 		0.030 1.000 3 2007 2011
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		0.010 1.000 1 2016 2016
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2016 2016
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0270202
Disease: Hemolytic disease of fetus OR newborn due to ABO immunization
Hemolytic disease of fetus OR newborn due to ABO immunization 		0.010 1.000 1 2019 2019
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.010 1.000 1 2008 2008
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		0.010 1.000 1 2016 2016
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
Secondary malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2014 2014
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0860218
Disease: ABO incompatibility
ABO incompatibility 		0.010 1.000 1 2017 2017
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C3888554
Disease: UGT1A1 gene polymorphism
UGT1A1 gene polymorphism 		0.010 1.000 1 2019 2019
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		0.010 < 0.001 1 2019 2019
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0268306
Disease: Unconjugated hyperbilirubinemia
Unconjugated hyperbilirubinemia 		0.010 1.000 1 2016 2016
dbSNP: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0022346
Disease: Icterus
Icterus 		0.010 1.000 1 2011 2011