Gene: UGT1A1 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1283652721
rs1283652721
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
2 0.925 0.080 2 233768265 missense variant G/T snv 7.0E-06 0.700 1.000 10 1992 2013
dbSNP: rs72551339
rs72551339
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233760402 missense variant C/G snv 0.700 1.000 10 1992 2013
dbSNP: rs72551352
rs72551352
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233768237 missense variant G/A snv 0.700 1.000 10 1992 2013
dbSNP: rs72551353
rs72551353
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233768259 missense variant C/T snv 7.0E-06 0.800 1.000 10 1992 2013
dbSNP: rs72551354
rs72551354
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233768278 missense variant C/G;T snv 0.700 1.000 10 1992 2013
dbSNP: rs72551355
rs72551355
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233768336 missense variant G/C snv 0.700 1.000 10 1992 2013
dbSNP: rs72551356
rs72551356
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233768417 missense variant A/G snv 0.700 1.000 10 1992 2013
dbSNP: rs4148326
rs4148326
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
5 0.925 0.080 2 233764816 intron variant T/C snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs111033539
rs111033539
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
2 0.925 0.080 2 233767160 stop gained C/T snv 0.700 0
dbSNP: rs1349037761
rs1349037761
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
2 0.925 0.080 2 233768262 missense variant A/G snv 0.700 0
dbSNP: rs1476500325
rs1476500325
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A
2 0.925 0.080 2 233772338 missense variant T/C snv 7.0E-06 0.700 0
dbSNP: rs1553620849
rs1553620849
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233760895 inframe deletion CATGACCTTCCTGCAGCGGGTGAA/- delins 0.700 0
dbSNP: rs281865418
rs281865418
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
3 0.882 0.080 2 233761127 stop gained C/A;G snv 0.700 0
dbSNP: rs587776761
rs587776761
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233767046 frameshift variant TACATTAATGCTTC/A delins 0.700 0
dbSNP: rs587776762
rs587776762
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233760795 inframe deletion CTT/- delins 0.700 0
dbSNP: rs587776763
rs587776763
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233760761 frameshift variant -/T ins 0.700 0
dbSNP: rs587776764
rs587776764
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233761152 splice donor variant G/C snv 2.1E-05 0.700 0
dbSNP: rs587776765
rs587776765
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233760432 stop gained C/T snv 0.700 0
dbSNP: rs587776766
rs587776766
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233768218 splice acceptor variant A/G snv 0.700 0
dbSNP: rs748219743
rs748219743
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
4 1.000 0.080 2 233760634 frameshift variant -/A delins 0.700 0
dbSNP: rs901936528
rs901936528
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233768294 missense variant C/T snv 0.700 0
dbSNP: rs72551343
rs72551343
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
2 0.925 0.080 2 233760912 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 3.2E-05 0.700 0
dbSNP: rs72551340
rs72551340
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233760509 stop gained C/A snv 4.0E-06 1.0E-04 0.710 1.000 1 2019 2019
dbSNP: rs72551342
rs72551342
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233760816 missense variant T/C snv 4.0E-06 0.700 1.000 10 1992 2013
dbSNP: rs72551345
rs72551345
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233761113 missense variant G/C;T snv 8.0E-06; 4.0E-06 0.700 1.000 10 1992 2013