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: 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: 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: 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: 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: rs766536479
rs766536479
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233760908 frameshift variant -/CAGC delins 1.2E-05 0.700 0
dbSNP: rs62625011
rs62625011
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
2 0.925 0.080 2 233767092 missense variant G/A snv 1.2E-05 0.810 1.000 11 1992 2013
dbSNP: rs72551351
rs72551351
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233767922 missense variant A/G snv 4.0E-06 0.810 1.000 11 1992 2013
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: rs367897068
rs367897068
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233768319 missense variant G/A;C;T snv 6.4E-05; 1.6E-05 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: 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
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: rs750453538
rs750453538
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233767859 missense variant G/A;C snv 1.6E-05 0.700 1.000 10 1992 2013
dbSNP: rs758873309
rs758873309
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233767044 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.700 1.000 10 1992 2013
dbSNP: rs35003977
rs35003977
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
2 0.925 0.080 2 233760961 missense variant T/G snv 5.9E-04 3.6E-04 0.700 1.000 3 2000 2015
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: 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: rs72551349
rs72551349
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
2 0.925 0.080 2 233767873 stop gained C/G;T snv 4.0E-06; 2.8E-05 0.710 1.000 1 2019 2019
dbSNP: rs773195449
rs773195449
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
1 1.000 0.080 2 233767876 missense variant C/A;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2019 2019