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: rs4148323
rs4148323
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
22 0.701 0.440 2 233760498 missense variant G/A snv 2.2E-02 9.2E-03 0.100 0.923 13 2001 2019
dbSNP: rs8175347
rs8175347
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3
16 0.708 0.400 2 233760234 intron variant TATA/-;TA;TATATA;TATATATA;TATATATATA;TATATATATATA delins 0.040 1.000 4 2011 2019
dbSNP: rs2306283
rs2306283
SLCO1B1
16 0.742 0.320 12 21176804 missense variant A/G;T snv 0.47 0.020 1.000 2 2013 2016
dbSNP: rs373327528
rs373327528
SLCO1B1
1 1.000 0.040 12 21172776 missense variant G/A snv 4.4E-05 6.3E-05 0.020 1.000 2 2015 2016
dbSNP: rs4149056
rs4149056
SLCO1B1
45 0.633 0.480 12 21178615 missense variant T/C snv 0.13 0.12 0.020 1.000 2 2013 2015
dbSNP: rs774010631
rs774010631
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4
5 0.827 0.160 2 233719115 missense variant G/C snv 2.4E-05 2.1E-05 0.020 1.000 2 2006 2016
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2006 2006
dbSNP: rs1046420357
rs1046420357
SLCO1B3 ; SLCO1B3-SLCO1B7
1 1.000 0.040 12 20862840 missense variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs11045819
rs11045819
SLCO1B1
4 0.851 0.120 12 21176879 missense variant C/A;T snv 0.11; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs113683735
rs113683735
HMOX1
2 0.925 0.080 22 35386751 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs12979860
rs12979860
IFNL4
84 0.547 0.520 19 39248147 intron variant C/T snv 0.39 0.010 1.000 1 2019 2019
dbSNP: rs1359908894
rs1359908894
DNMT1
1 1.000 0.040 19 10154757 missense variant G/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1672753
rs1672753
CRBN
4 0.882 0.240 3 3179746 upstream gene variant C/T snv 0.71 0.010 < 0.001 1 2019 2019
dbSNP: rs1714327
rs1714327
TRNT1 ; CRBN
1 1.000 0.040 3 3147230 intron variant C/G snv 0.53 0.010 < 0.001 1 2019 2019
dbSNP: rs1801019
rs1801019
UMPS
4 0.882 0.080 3 124737895 missense variant G/A;C snv 4.0E-06; 0.19 0.010 1.000 1 2011 2011
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs33947415
rs33947415
HBB
3 0.882 0.120 11 5226684 missense variant C/G;T snv 9.4E-04 0.010 1.000 1 2003 2003
dbSNP: rs368362776
rs368362776
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
3 0.882 0.120 2 233693633 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs368817817
rs368817817
SLCO1B3 ; SLCO1B3-SLCO1B7
1 1.000 0.040 12 20855154 missense variant G/A snv 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2008 2008
dbSNP: rs6717546
rs6717546
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A5 ; UGT1A9 ; UGT1A4 ; UGT1A1 ; UGT1A3 ; MROH2A
3 1.000 0.040 2 233773473 upstream gene variant A/G snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs6719561
rs6719561
MROH2A
3 1.000 0.040 2 233775117 upstream gene variant C/T snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs757344228
rs757344228
SLC45A2
1 1.000 0.040 5 33982263 frameshift variant -/CT delins 1.6E-05 1.4E-05 0.010 1.000 1 2002 2002
dbSNP: rs758907500
rs758907500
AGA
2 0.925 0.120 4 177440274 missense variant C/G snv 1.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs764682757
rs764682757
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A9
1 1.000 0.040 2 233682322 missense variant A/G snv 4.0E-06 0.010 1.000 1 2016 2016