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: rs4148325
rs4148325
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
11 0.851 0.080 2 233764663 intron variant C/T snv 0.36 0.800 1.000 7 2011 2019
dbSNP: rs887829
rs887829
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
18 0.763 0.280 2 233759924 intron variant C/T snv 0.36 0.800 1.000 7 2009 2015
dbSNP: rs3755319
rs3755319
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
8 0.925 0.120 2 233758936 intron variant A/C;G;T snv 0.800 1.000 6 2009 2015
dbSNP: rs6742078
rs6742078
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
13 0.807 0.240 2 233763993 intron variant G/T snv 0.36 0.800 1.000 6 2009 2015
dbSNP: rs10179091
rs10179091
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
4 2 233749337 intron variant T/C snv 0.49 0.800 1.000 5 2009 2015
dbSNP: rs11891311
rs11891311
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
4 2 233730664 intron variant G/A snv 0.42 0.800 1.000 4 2009 2013
dbSNP: rs7564935
rs7564935
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
3 2 233736540 intron variant G/T snv 0.37 0.800 1.000 4 2009 2019
dbSNP: rs929596
rs929596
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
9 0.925 0.040 2 233765830 intron variant A/G snv 0.32 0.800 1.000 4 2012 2019
dbSNP: rs10178992
rs10178992
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
4 2 233749231 intron variant T/A snv 0.37 0.800 1.000 3 2009 2015
dbSNP: rs10929301
rs10929301
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
4 2 233755003 splice region variant C/G;T snv 0.48 0.800 1.000 3 2009 2015
dbSNP: rs11673726
rs11673726
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
4 2 233755414 non coding transcript exon variant G/A;T snv 0.800 1.000 3 2009 2015
dbSNP: rs11695484
rs11695484
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; DNAJB3
3 2 233745803 intron variant A/G snv 0.30 0.800 1.000 3 2012 2015
dbSNP: rs11888459
rs11888459
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A2P ; UGT1A9 ; UGT1A4 ; UGT1A3
4 2 233747994 non coding transcript exon variant T/C snv 0.37 0.800 1.000 3 2009 2015
dbSNP: rs1550532
rs1550532
DGKD
4 2 233356202 intron variant C/G snv 0.75 0.800 1.000 3 2009 2010
dbSNP: rs17863787
rs17863787
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
9 0.925 0.040 2 233702448 intron variant T/G snv 0.30 0.800 1.000 3 2012 2019
dbSNP: rs1875263
rs1875263
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4
7 1.000 2 233716976 intron variant C/G;T snv 0.800 1.000 3 2009 2015
dbSNP: rs2361502
rs2361502
MROH2A
3 1.000 0.040 2 233790144 intron variant T/C snv 0.30 0.800 1.000 3 2009 2019
dbSNP: rs4663969
rs4663969
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
6 1.000 2 233746667 intron variant C/A;T snv 0.800 1.000 3 2009 2015
dbSNP: rs6714634
rs6714634
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
4 2 233756119 non coding transcript exon variant T/C snv 0.30 0.800 1.000 3 2012 2015
dbSNP: rs7604115
rs7604115
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
4 2 233749470 intron variant C/T snv 0.37 0.800 1.000 3 2009 2015
dbSNP: rs10929302
rs10929302
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3 ; LOC100286922
4 2 233757136 intron variant G/A snv 0.30 0.800 1.000 2 2012 2015
dbSNP: rs12988520
rs12988520
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
3 1.000 0.040 2 233698748 intron variant A/C snv 0.51 0.800 1.000 2 2009 2019
dbSNP: rs17862875
rs17862875
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A3
4 2 233740656 intron variant G/A snv 0.30 0.800 1.000 2 2012 2015
dbSNP: rs2070959
rs2070959
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
16 0.742 0.320 2 233693545 missense variant A/G snv 0.31 0.30 0.800 1.000 2 2013 2019
dbSNP: rs2417940
rs2417940
SLCO1B3 ; SLCO1B3-SLCO1B7
3 12 20864941 intron variant T/A;C snv 0.800 1.000 2 2010 2013