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: rs4148323
rs4148323
0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
Pathological Conditions, Signs and Symptoms 0.100 0.923 13 2001 2019
dbSNP: rs8175347
rs8175347
0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
Pathological Conditions, Signs and Symptoms 0.040 1.000 4 2011 2019
dbSNP: rs774010631
rs774010631
0.827 0.160 2 233719115 missense variant G/C snv 2.4E-05 2.1E-05
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2006 2016
dbSNP: rs368362776
rs368362776
0.882 0.120 2 233693633 missense variant C/G;T snv 4.0E-06
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016
dbSNP: rs6717546
rs6717546
1.000 0.040 2 233773473 upstream gene variant A/G snv 0.59
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs764682757
rs764682757
1.000 0.040 2 233682322 missense variant A/G snv 4.0E-06
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2016 2016
dbSNP: rs887829
rs887829
0.763 0.280 2 233759924 intron variant C/T snv 0.36
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia
Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014