Source: CLINVAR

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: rs34993780
rs34993780
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A
0.827 0.120 2 233772413 missense variant T/A;C;G snv 2.2E-04
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.880 1.000 0 1993 2018
dbSNP: rs34993780
rs34993780
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A
0.827 0.120 2 233772413 missense variant T/A;C;G snv 2.2E-04
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.860 1.000 0 1995 2018
dbSNP: rs62625011
rs62625011
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.925 0.080 2 233767092 missense variant G/A snv 1.2E-05
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.810 1.000 0 1992 2013
dbSNP: rs72551351
rs72551351
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233767922 missense variant A/G snv 4.0E-06
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.810 1.000 0 1992 2013
dbSNP: rs111033541
rs111033541
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233760331 missense variant T/G snv
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.800 1.000 0 1993 2013
dbSNP: rs34993780
rs34993780
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A
0.827 0.120 2 233772413 missense variant T/A;C;G snv 2.2E-04
CUI: C0270210
Disease: Lucey-Driscoll syndrome (disorder)
Lucey-Driscoll syndrome (disorder) 		0.800 1.000 0 2000 2000
dbSNP: rs72551348
rs72551348
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233767161 missense variant A/G snv 4.0E-06 2.1E-05
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.800 1.000 0 1993 2013
dbSNP: rs72551353
rs72551353
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
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 		0.800 1.000 0 1992 2013
dbSNP: rs34946978
rs34946978
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.851 0.120 2 233768226 missense variant C/G;T snv 1.2E-03
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.710 1.000 0 2018 2018
dbSNP: rs34946978
rs34946978
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.851 0.120 2 233768226 missense variant C/G;T snv 1.2E-03
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.710 1.000 0 2018 2018
dbSNP: rs72551340
rs72551340
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233760509 stop gained C/A snv 4.0E-06 1.0E-04
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.710 1.000 0 2019 2019
dbSNP: rs72551349
rs72551349
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.925 0.080 2 233767873 stop gained C/G;T snv 4.0E-06; 2.8E-05
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.710 1.000 0 2019 2019
dbSNP: rs35003977
rs35003977
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.925 0.080 2 233760961 missense variant T/G snv 5.9E-04 3.6E-04
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 1.000 3 2000 2015
dbSNP: rs111033539
rs111033539
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.925 0.080 2 233767160 stop gained C/T snv
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 0
dbSNP: rs139607673
rs139607673
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.925 0.080 2 233767858 missense variant C/T snv 8.0E-06; 4.0E-06 1.4E-05
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 0
dbSNP: rs1553620849
rs1553620849
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233760895 inframe deletion CATGACCTTCCTGCAGCGGGTGAA/- delins
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 0
dbSNP: rs281865418
rs281865418
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.882 0.080 2 233761127 stop gained C/A;G snv
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 0
dbSNP: rs34946978
rs34946978
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.851 0.120 2 233768226 missense variant C/G;T snv 1.2E-03
CUI: C1866173
Disease: BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 		0.700 0
dbSNP: rs34946978
rs34946978
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.851 0.120 2 233768226 missense variant C/G;T snv 1.2E-03
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 0
dbSNP: rs34946978
rs34946978
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.851 0.120 2 233768226 missense variant C/G;T snv 1.2E-03
CUI: C0270210
Disease: Lucey-Driscoll syndrome (disorder)
Lucey-Driscoll syndrome (disorder) 		0.700 0
dbSNP: rs34946978
rs34946978
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.851 0.120 2 233768226 missense variant C/G;T snv 1.2E-03
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		0.700 0
dbSNP: rs34993780
rs34993780
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A
0.827 0.120 2 233772413 missense variant T/A;C;G snv 2.2E-04
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 0
dbSNP: rs34993780
rs34993780
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A
0.827 0.120 2 233772413 missense variant T/A;C;G snv 2.2E-04
CUI: C1866173
Disease: BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
BILIRUBIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 		0.700 0
dbSNP: rs34993780
rs34993780
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A
0.827 0.120 2 233772413 missense variant T/A;C;G snv 2.2E-04
CUI: C0311468
Disease: Increased bilirubin level (finding)
Increased bilirubin level (finding) 		0.700 0
dbSNP: rs3755319
rs3755319
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.925 0.120 2 233758936 intron variant A/C;G;T snv
CUI: C0270210
Disease: Lucey-Driscoll syndrome (disorder)
Lucey-Driscoll syndrome (disorder) 		0.700 0