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: 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