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: 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 0.020 1.000 2 2016 2019
dbSNP: rs9514089
rs9514089
SLC10A2
3 0.882 0.080 13 103058487 intron variant T/C snv 0.41 0.020 0.500 2 2009 2011
dbSNP: rs1011770
rs1011770
BAZ2B
2 0.925 0.040 2 159382207 intron variant A/G snv 2.5E-02 0.700 1.000 1 2007 2007
dbSNP: rs10888095
rs10888095
SGCZ
2 0.925 0.040 8 15004905 intron variant C/A;G snv 0.700 1.000 1 2007 2007
dbSNP: rs10998022
rs10998022
MYPN
2 0.925 0.040 10 68210229 intron variant C/T snv 0.26 0.700 1.000 1 2007 2007
dbSNP: rs11186149
rs11186149
SH2D4B
2 0.925 0.040 10 80580951 intron variant T/C snv 8.6E-02 0.700 1.000 1 2007 2007
dbSNP: rs135851
rs135851
C22orf34
2 0.925 0.040 22 49583909 intron variant A/C snv 4.4E-02 0.700 1.000 1 2007 2007
dbSNP: rs1475029
rs1475029
MIR646HG ; LOC729296
2 0.925 0.040 20 60093953 intron variant A/G snv 0.23 0.700 1.000 1 2007 2007
dbSNP: rs16824658
rs16824658
HMCN1
2 0.925 0.040 1 185895380 intron variant A/G snv 7.6E-02 0.700 1.000 1 2007 2007
dbSNP: rs16843641
rs16843641
TANC1
2 0.925 0.040 2 159061866 intron variant T/C snv 1.2E-02 0.700 1.000 1 2007 2007
dbSNP: rs17063627
rs17063627
GNA14
2 0.925 0.040 9 77424742 intron variant A/G snv 7.2E-02 0.700 1.000 1 2007 2007
dbSNP: rs17088392
rs17088392
DACH1
2 0.925 0.040 13 71683104 intron variant T/C snv 8.5E-02 0.700 1.000 1 2007 2007
dbSNP: rs17241442
rs17241442
TNC ; DELEC1
2 0.925 0.040 9 115062806 intron variant G/A snv 0.11 0.700 1.000 1 2007 2007
dbSNP: rs2013647
rs2013647
ZNF28
2 0.925 0.040 19 52827416 intron variant C/T snv 0.11 0.700 1.000 1 2007 2007
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2012 2012
dbSNP: rs253314
rs253314
MYO10
2 0.925 0.040 5 16871155 intron variant A/C snv 6.9E-02 0.700 1.000 1 2007 2007
dbSNP: rs41506144
rs41506144
FRMD4A
2 0.925 0.040 10 13834687 intron variant C/G;T snv 0.700 1.000 1 2007 2007
dbSNP: rs4299376
rs4299376
ABCG8 ; LOC102725159
11 0.851 0.120 2 43845437 intron variant G/C;T snv 0.700 1.000 1 2007 2007
dbSNP: rs6598902
rs6598902
STX12
2 0.925 0.040 1 27779198 intron variant T/C snv 0.18 0.700 1.000 1 2007 2007
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 0.010 1.000 1 2010 2010
dbSNP: rs708272
rs708272
CETP
24 0.708 0.440 16 56962376 intron variant G/A snv 0.42 0.38 0.010 1.000 1 2010 2010
dbSNP: rs738785
rs738785
GUSBP11
2 0.925 0.040 22 23680444 intron variant C/T snv 0.49 0.700 1.000 1 2007 2007
dbSNP: rs8061765
rs8061765
TMEM114
2 0.925 0.040 16 8540871 intron variant G/A snv 0.11 0.700 1.000 1 2007 2007
dbSNP: rs8083296
rs8083296
L3MBTL4
2 0.925 0.040 18 6158717 intron variant A/C snv 5.4E-02 0.700 1.000 1 2007 2007
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 0.010 1.000 1 2016 2016