Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C2931132
Disease:
Crigler Najjar syndrome, type 2 		G 0.880 CausalMutation CLINVAR
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C2931132
Disease:
Crigler Najjar syndrome, type 2 		G 0.880 GeneticVariation CLINVAR
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		G 0.860 GeneticVariation CLINVAR
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		G 0.860 CausalMutation CLINVAR
dbSNP: rs62625011
rs62625011
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
CUI: C0010324
Disease:
Crigler Najjar syndrome, type 1 		A 0.810 CausalMutation CLINVAR
dbSNP: rs72551351
rs72551351
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
CUI: C0010324
Disease:
Crigler Najjar syndrome, type 1 		G 0.810 CausalMutation CLINVAR
dbSNP: rs111033541
rs111033541
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
CUI: C2931132
Disease:
Crigler Najjar syndrome, type 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0270210
Disease:
Lucey-Driscoll syndrome (disorder) 		G 0.800 GeneticVariation CLINVAR
dbSNP: rs34993780
rs34993780
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0270210
Disease:
Lucey-Driscoll syndrome (disorder) 		G 0.800 CausalMutation CLINVAR
dbSNP: rs72551348
rs72551348
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
CUI: C2931132
Disease:
Crigler Najjar syndrome, type 2 		G 0.800 CausalMutation CLINVAR
dbSNP: rs72551353
rs72551353
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
CUI: C0010324
Disease:
Crigler Najjar syndrome, type 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs35350960
rs35350960
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		0.730 GeneticVariation UNIPROT
dbSNP: rs34946978
rs34946978
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
CUI: C2931132
Disease:
Crigler Najjar syndrome, type 2 		T 0.710 GeneticVariation CLINVAR
dbSNP: rs34946978
rs34946978
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		T 0.710 GeneticVariation CLINVAR
dbSNP: rs34946978
rs34946978
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
CUI: C0017551
Disease:
Gilbert Disease (disorder) 		T 0.710 CausalMutation CLINVAR
dbSNP: rs35350960
rs35350960
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
CUI: C2931132
Disease:
Crigler Najjar syndrome, type 2 		0.710 GeneticVariation UNIPROT
dbSNP: rs72551340
rs72551340
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
CUI: C0010324
Disease:
Crigler Najjar syndrome, type 1 		A 0.710 CausalMutation CLINVAR
dbSNP: rs72551349
rs72551349
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
CUI: C0010324
Disease:
Crigler Najjar syndrome, type 1 		T 0.710 CausalMutation CLINVAR
dbSNP: rs111033539
rs111033539
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
CUI: C0010324
Disease:
Crigler Najjar syndrome, type 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1349037761
rs1349037761
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
CUI: C0010324
Disease:
Crigler Najjar syndrome, type 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs1349037761
rs1349037761
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
CUI: C2931132
Disease:
Crigler Najjar syndrome, type 2 		0.700 GeneticVariation UNIPROT
dbSNP: rs139607673
rs139607673
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
CUI: C0010324
Disease:
Crigler Najjar syndrome, type 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1476500325
rs1476500325
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C0010324
Disease:
Crigler Najjar syndrome, type 1 		0.700 GeneticVariation UNIPROT
dbSNP: rs1476500325
rs1476500325
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659;339766
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3;MROH2A
CUI: C2931132
Disease:
Crigler Najjar syndrome, type 2 		0.700 GeneticVariation UNIPROT
dbSNP: rs1553620849
rs1553620849
Entrez Id: 54575;54576;54577;54578;54579;54600;54657;54658;54659
Gene Symbol: UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
UGT1A10;UGT1A8;UGT1A7;UGT1A6;UGT1A5;UGT1A9;UGT1A4;UGT1A1;UGT1A3
CUI: C0010324
Disease:
Crigler Najjar syndrome, type 1 		C 0.700 GeneticVariation CLINVAR