Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Gilbert Disease (disorder)
CUI: C0017551
Disease: Gilbert Disease (disorder)
29 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.800 1.000 15 1995 2018
Bilirubin measurement
CUI: C0344395
Disease: Bilirubin measurement
535 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.800 1.000 2 2010 2013
Crigler Najjar syndrome, type 2
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
27 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.750 1.000 20 1993 2018
Bilirubin level result
CUI: C1287365
Disease: Bilirubin level result
478 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.700 1.000 1 2013 2013
Height
CUI: C0489786
Disease: Height
517 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.700 1.000 1 2010 2010
Lucey-Driscoll syndrome (disorder)
CUI: C0270210
Disease: Lucey-Driscoll syndrome (disorder)
4 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.700 1.000 1 2000 2000
Hyperbilirubinemia
CUI: C0020433
Disease: Hyperbilirubinemia
27 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.100 0.923 13 2001 2019
Hyperbilirubinemia, Neonatal
CUI: C0857007
Disease: Hyperbilirubinemia, Neonatal
15 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.100 1.000 10 2007 2019
Neonatal Jaundice
CUI: C0022353
Disease: Neonatal Jaundice
2 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.030 1.000 3 2007 2011
ABO incompatibility
CUI: C0860218
Disease: ABO incompatibility
2 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2017 2017
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2016 2016
Carcinoma of larynx
CUI: C0595989
Disease: Carcinoma of larynx
65 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2016 2016
Cholelithiasis
CUI: C0008350
Disease: Cholelithiasis
90 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2008 2008
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2016 2016
Drug-Induced Liver Disease
CUI: C0860207
Disease: Drug-Induced Liver Disease
29 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1 2019 2019
Hemolytic disease of fetus OR newborn due to ABO immunization
CUI: C0270202
Disease: Hemolytic disease of fetus OR newborn due to ABO immunization
1 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2019 2019
Icterus
CUI: C0022346
Disease: Icterus
17 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2011 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
3417 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2016 2016
Malignant neoplasm of larynx
CUI: C0007107
Disease: Malignant neoplasm of larynx
50 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2016 2016
Secondary malignant neoplasm of colon and/or rectum
CUI: C4721579
Disease: Secondary malignant neoplasm of colon and/or rectum
68 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2014 2014
UGT1A1 gene polymorphism
CUI: C3888554
Disease: UGT1A1 gene polymorphism
1 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2019 2019
Unconjugated hyperbilirubinemia
CUI: C0268306
Disease: Unconjugated hyperbilirubinemia
4 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.010 1.000 1 2016 2016