Source: CURATED

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: rs1283652721
rs1283652721
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.925 0.080 2 233768265 missense variant G/T snv 7.0E-06
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.700 1.000 16 1993 2013
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: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.700 1.000 16 1993 2013
dbSNP: rs28934877
rs28934877
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233768333 missense variant A/C;G snv 4.0E-06; 2.8E-05
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.700 1.000 16 1993 2013
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: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.700 1.000 16 1993 2013
dbSNP: rs397978903
rs397978903
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233761122 missense variant A/T snv 2.8E-05 2.8E-05
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.700 1.000 16 1993 2013
dbSNP: rs55750087
rs55750087
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.882 0.120 2 233768234 missense variant C/G;T snv 2.0E-05
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.700 1.000 16 1993 2013
dbSNP: rs72551341
rs72551341
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233760811 missense variant T/A snv 4.8E-05 3.5E-05
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.700 1.000 16 1993 2013
dbSNP: rs72551343
rs72551343
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.925 0.080 2 233760912 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 3.2E-05
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.700 1.000 16 1993 2013
dbSNP: rs72551347
rs72551347
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.925 0.080 2 233767050 missense variant T/C snv
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.700 1.000 16 1993 2013
dbSNP: rs748989741
rs748989741
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233768243 missense variant A/G snv 8.0E-06 7.0E-06
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.700 1.000 16 1993 2013
dbSNP: rs754922685
rs754922685
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233760976 missense variant A/G snv 4.0E-06
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.700 1.000 16 1993 2013
dbSNP: rs778766461
rs778766461
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233768342 missense variant C/A;T snv 3.6E-05
CUI: C2931132
Disease: Crigler Najjar syndrome, type 2
Crigler Najjar syndrome, type 2 		0.700 1.000 16 1993 2013
dbSNP: rs1283652721
rs1283652721
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.925 0.080 2 233768265 missense variant G/T snv 7.0E-06
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 1.000 10 1992 2013
dbSNP: rs367897068
rs367897068
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233768319 missense variant G/A;C;T snv 6.4E-05; 1.6E-05
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 1.000 10 1992 2013
dbSNP: rs72551339
rs72551339
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233760402 missense variant C/G snv
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 1.000 10 1992 2013
dbSNP: rs72551342
rs72551342
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233760816 missense variant T/C snv 4.0E-06
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 1.000 10 1992 2013
dbSNP: rs72551345
rs72551345
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233761113 missense variant G/C;T snv 8.0E-06; 4.0E-06
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 1.000 10 1992 2013
dbSNP: rs72551352
rs72551352
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233768237 missense variant G/A snv
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 1.000 10 1992 2013
dbSNP: rs72551354
rs72551354
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233768278 missense variant C/G;T snv
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 1.000 10 1992 2013
dbSNP: rs72551355
rs72551355
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233768336 missense variant G/C snv
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 1.000 10 1992 2013
dbSNP: rs72551356
rs72551356
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233768417 missense variant A/G snv
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 1.000 10 1992 2013
dbSNP: rs750453538
rs750453538
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233767859 missense variant G/A;C snv 1.6E-05
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 1.000 10 1992 2013
dbSNP: rs758873309
rs758873309
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1.000 0.080 2 233767044 missense variant C/A;G;T snv 4.0E-06; 4.0E-06
CUI: C0010324
Disease: Crigler Najjar syndrome, type 1
Crigler Najjar syndrome, type 1 		0.700 1.000 10 1992 2013
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: C1287365
Disease: Bilirubin level result
Bilirubin level result 		0.700 1.000 5 2009 2013
dbSNP: rs55750087
rs55750087
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
0.882 0.120 2 233768234 missense variant C/G;T snv 2.0E-05
CUI: C0017551
Disease: Gilbert Disease (disorder)
Gilbert Disease (disorder) 		0.700 1.000 5 1995 2007